sujigwak/NVAR huggingface dataset:
UniProt ID: P81910
Variant: D -> A at position 201-201
Variant annotation: in strain: NC21a, NC52a, NC62a, NC73a and NC79b
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: V -> L at position 213-213
Variant annotation: in strain: LA116, MA45, MA50, MW37, MW6, MW9, NC52a and NC73a
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: I -> M at position 214-214
Variant annotation: in strain: LA116, MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: T -> S at position 220-220
Variant annotation: in strain: LA116, MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: R -> M at position 235-235
Variant annotation: in strain: MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: A -> T at position 245-245
Variant annotation: in strain: LA116, MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: D -> N at position 256-256
Variant annotation: in strain: MW44
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: G -> R at position 267-267
Variant annotation: in strain: MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: I -> V at position 278-278
Variant annotation: in strain: LA108 and LA120
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: Q -> E at position 309-309
Variant annotation: in strain: LA116, LA25, LA4, MA24, MA45, MA50, MW37, MW6 and MW9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: F -> S at position 313-313
Variant annotation: in strain: NC16a
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: R -> S at position 341-341
Variant annotation: in strain: LA116
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: L -> I at position 354-354
Variant annotation: in strain: NC52a, NC73a and NC79b
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P81910
Variant: V -> M at position 387-387
Variant annotation: in strain: LA9
Protein function: Odorant receptor which mediates acceptance or avoidance behavior, depending on its substrates. The odorant receptor repertoire encodes a large collection of odor stimuli that vary widely in identity, intensity, and duration. Involved in the behavioral responses to esters. Complexes with Orco to form odorant-sensing units, providing sensitive and prolonged odorant signaling and calcium permeability. They are necessary and sufficient to promote functional reconstitution of odor-evoked signaling in sensory neurons that normally respond only to carbon dioxide.
Reference sequence:
MLSQFFPHIKEKPLSERVKSRDAFVYLDRVMWSFGWTVPENKRWDLHYKLWSTFVTLLIFILLPISVSVEYIQRFKTFSAGEFLSSIQIGVNMYGSSFKSYLTMMGYKKRQEAKMSLDELDKRCVCDEERTIVHRHVALGNFCYIFYHIAYTSFLISNFLSFIMKRIHAWRMYFPYVDPEKQFYISSIAEVILRGWAVFMDLCTDVCPLISMVIARCHITLLKQRLRNLRSEPGRTEDEYLKELADCVRDHRLILDYVDALRSVFSGTIFVQFLLIGIVLGLSMINIMFFSTLSTGVAVVLFMSCVSMQTFPFCYLCNMIMDDCQEMADSLFQSDWTSADRRYKSTLVYFLHNLQQPIILTAGGVFPISMQTNLNMVKLAFTVVTIVKQFNLAEKFQ
UniProt ID: P82019
Variant: L -> P at position 12-12
Variant annotation: in strain: FVB
Protein function: Exhibits antimicrobial activity against Gram-negative bacteria and Gram-positive bacteria. May act as a ligand for C-C chemokine receptor CCR6. Can bind to mouse (but not human) CCR6 and induce chemotactic activity of CCR6-expressing cells .
Reference sequence:
MRIHYLLFTFLLVLLSPLAAFTQIINNPITCMTNGAICWGPCPTAFRQIGNCGHFKVRCCKIR
UniProt ID: P82045
Variant: M -> V at position 10-10
Variant annotation: in haplotype CNT1
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
KDILGILLLMLFLMLLVLFAPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVSSILILILMPFLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEYPFIIIGQLASILYFFIILVLMPITSTIENNLLKW
UniProt ID: P82045
Variant: S -> N at position 37-37
Variant annotation: in haplotype CNT1
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
KDILGILLLMLFLMLLVLFAPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVSSILILILMPFLHTSKQRSMMFRPFSQCLFWILVADLLTLTWIGGQPVEYPFIIIGQLASILYFFIILVLMPITSTIENNLLKW
UniProt ID: P82094
Variant: Q -> E at position 430-430
Variant annotation: in dbSNP:rs35447207
Protein function: Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).
Reference sequence:
MSWFNASQLSSFAKQALSQAQKSIDRVLDIQEEEPSIWAETIPYGEPGISSPVSGGWDTSTWGLKSNTEPQSPPIASPKAITKPVRRTVVDESENFFSAFLSPTDVQTIQKSPVVSKPPAKSQRPEEEVKSSLHESLHIGQSRTPETTESQVKDSSLCVSGETLAAGTSSPKTEGKHEETVNKESDMKVPTVSLKVSESVIDVKTTMESISNTSTQSLTAETKDIALEPKEQKHEDRQSNTPSPPVSTFSSGTSTTSDIEVLDHESVISESSASSRQETTDSKSSLHLMQTSFQLLSASACPEYNRLDDFQKLTESCCSSDAFERIDSFSVQSLDSRSVSEINSDDELSGKGYALVPIIVNSSTPKSKTVESAEGKSEEVNETLVIPTEEAEMEESGRSATPVNCEQPDILVSSTPINEGQTVLDKVAEQCEPAESQPEALSEKEDVCKTVEFLNEKLEKREAQLLSLSKEKALLEEAFDNLKDEMFRVKEESSSISSLKDEFTQRIAEAEKKVQLACKERDAAKKEIKNIKEELATRLNSSETADLLKEKDEQIRGLMEEGEKLSKQQLHNSNIIKKLRAKDKENENMVAKLNKKVKELEEELQHLKQVLDGKEEVEKQHRENIKKLNSMVERQEKDLGRLQVDMDELEEKNRSIQAALDSAYKELTDLHKANAAKDSEAQEAALSREMKAKEELSAALEKAQEEARQQQETLAIQVGDLRLALQRTEQAAARKEDYLRHEIGELQQRLQEAENRNQELSQSVSSTTRPLLRQIENLQATLGSQTSSWEKLEKNLSDRLGESQTLLAAAVERERAATEELLANKIQMSSMESQNSLLRQENSRFQAQLESEKNRLCKLEDENNRYQVELENLKDEYVRTLEETRKEKTLLNSQLEMERMKVEQERKKAIFTQETIKEKERKPFSVSSTPTMSRSSSISGVDMAGLQTSFLSQDESHDHSFGPMPISANGSNLYDAVRMGAGSSIIENLQSQLKLREGEITHLQLEIGNLEKTRSIMAEELVKLTNQNDELEEKVKEIPKLRTQLRDLDQRYNTILQMYGEKAEEAEELRLDLEDVKNMYKTQIDELLRQSLS
UniProt ID: P82094
Variant: C -> Y at position 448-448
Variant annotation: in dbSNP:rs34428015
Protein function: Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).
Reference sequence:
MSWFNASQLSSFAKQALSQAQKSIDRVLDIQEEEPSIWAETIPYGEPGISSPVSGGWDTSTWGLKSNTEPQSPPIASPKAITKPVRRTVVDESENFFSAFLSPTDVQTIQKSPVVSKPPAKSQRPEEEVKSSLHESLHIGQSRTPETTESQVKDSSLCVSGETLAAGTSSPKTEGKHEETVNKESDMKVPTVSLKVSESVIDVKTTMESISNTSTQSLTAETKDIALEPKEQKHEDRQSNTPSPPVSTFSSGTSTTSDIEVLDHESVISESSASSRQETTDSKSSLHLMQTSFQLLSASACPEYNRLDDFQKLTESCCSSDAFERIDSFSVQSLDSRSVSEINSDDELSGKGYALVPIIVNSSTPKSKTVESAEGKSEEVNETLVIPTEEAEMEESGRSATPVNCEQPDILVSSTPINEGQTVLDKVAEQCEPAESQPEALSEKEDVCKTVEFLNEKLEKREAQLLSLSKEKALLEEAFDNLKDEMFRVKEESSSISSLKDEFTQRIAEAEKKVQLACKERDAAKKEIKNIKEELATRLNSSETADLLKEKDEQIRGLMEEGEKLSKQQLHNSNIIKKLRAKDKENENMVAKLNKKVKELEEELQHLKQVLDGKEEVEKQHRENIKKLNSMVERQEKDLGRLQVDMDELEEKNRSIQAALDSAYKELTDLHKANAAKDSEAQEAALSREMKAKEELSAALEKAQEEARQQQETLAIQVGDLRLALQRTEQAAARKEDYLRHEIGELQQRLQEAENRNQELSQSVSSTTRPLLRQIENLQATLGSQTSSWEKLEKNLSDRLGESQTLLAAAVERERAATEELLANKIQMSSMESQNSLLRQENSRFQAQLESEKNRLCKLEDENNRYQVELENLKDEYVRTLEETRKEKTLLNSQLEMERMKVEQERKKAIFTQETIKEKERKPFSVSSTPTMSRSSSISGVDMAGLQTSFLSQDESHDHSFGPMPISANGSNLYDAVRMGAGSSIIENLQSQLKLREGEITHLQLEIGNLEKTRSIMAEELVKLTNQNDELEEKVKEIPKLRTQLRDLDQRYNTILQMYGEKAEEAEELRLDLEDVKNMYKTQIDELLRQSLS
UniProt ID: P82094
Variant: Q -> R at position 682-682
Variant annotation: in dbSNP:rs3736422
Protein function: Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).
Reference sequence:
MSWFNASQLSSFAKQALSQAQKSIDRVLDIQEEEPSIWAETIPYGEPGISSPVSGGWDTSTWGLKSNTEPQSPPIASPKAITKPVRRTVVDESENFFSAFLSPTDVQTIQKSPVVSKPPAKSQRPEEEVKSSLHESLHIGQSRTPETTESQVKDSSLCVSGETLAAGTSSPKTEGKHEETVNKESDMKVPTVSLKVSESVIDVKTTMESISNTSTQSLTAETKDIALEPKEQKHEDRQSNTPSPPVSTFSSGTSTTSDIEVLDHESVISESSASSRQETTDSKSSLHLMQTSFQLLSASACPEYNRLDDFQKLTESCCSSDAFERIDSFSVQSLDSRSVSEINSDDELSGKGYALVPIIVNSSTPKSKTVESAEGKSEEVNETLVIPTEEAEMEESGRSATPVNCEQPDILVSSTPINEGQTVLDKVAEQCEPAESQPEALSEKEDVCKTVEFLNEKLEKREAQLLSLSKEKALLEEAFDNLKDEMFRVKEESSSISSLKDEFTQRIAEAEKKVQLACKERDAAKKEIKNIKEELATRLNSSETADLLKEKDEQIRGLMEEGEKLSKQQLHNSNIIKKLRAKDKENENMVAKLNKKVKELEEELQHLKQVLDGKEEVEKQHRENIKKLNSMVERQEKDLGRLQVDMDELEEKNRSIQAALDSAYKELTDLHKANAAKDSEAQEAALSREMKAKEELSAALEKAQEEARQQQETLAIQVGDLRLALQRTEQAAARKEDYLRHEIGELQQRLQEAENRNQELSQSVSSTTRPLLRQIENLQATLGSQTSSWEKLEKNLSDRLGESQTLLAAAVERERAATEELLANKIQMSSMESQNSLLRQENSRFQAQLESEKNRLCKLEDENNRYQVELENLKDEYVRTLEETRKEKTLLNSQLEMERMKVEQERKKAIFTQETIKEKERKPFSVSSTPTMSRSSSISGVDMAGLQTSFLSQDESHDHSFGPMPISANGSNLYDAVRMGAGSSIIENLQSQLKLREGEITHLQLEIGNLEKTRSIMAEELVKLTNQNDELEEKVKEIPKLRTQLRDLDQRYNTILQMYGEKAEEAEELRLDLEDVKNMYKTQIDELLRQSLS
UniProt ID: P82094
Variant: D -> H at position 798-798
Variant annotation: in dbSNP:rs1532918
Protein function: Potential coactivator of the androgen receptor. Mediates STAT3 degradation. May play critical roles in two RAB6-dependent retrograde transport processes: one from endosomes to the Golgi and the other from the Golgi to the ER. This protein binds the HIV-1 TATA element and inhibits transcriptional activation by the TATA-binding protein (TBP).
Reference sequence:
MSWFNASQLSSFAKQALSQAQKSIDRVLDIQEEEPSIWAETIPYGEPGISSPVSGGWDTSTWGLKSNTEPQSPPIASPKAITKPVRRTVVDESENFFSAFLSPTDVQTIQKSPVVSKPPAKSQRPEEEVKSSLHESLHIGQSRTPETTESQVKDSSLCVSGETLAAGTSSPKTEGKHEETVNKESDMKVPTVSLKVSESVIDVKTTMESISNTSTQSLTAETKDIALEPKEQKHEDRQSNTPSPPVSTFSSGTSTTSDIEVLDHESVISESSASSRQETTDSKSSLHLMQTSFQLLSASACPEYNRLDDFQKLTESCCSSDAFERIDSFSVQSLDSRSVSEINSDDELSGKGYALVPIIVNSSTPKSKTVESAEGKSEEVNETLVIPTEEAEMEESGRSATPVNCEQPDILVSSTPINEGQTVLDKVAEQCEPAESQPEALSEKEDVCKTVEFLNEKLEKREAQLLSLSKEKALLEEAFDNLKDEMFRVKEESSSISSLKDEFTQRIAEAEKKVQLACKERDAAKKEIKNIKEELATRLNSSETADLLKEKDEQIRGLMEEGEKLSKQQLHNSNIIKKLRAKDKENENMVAKLNKKVKELEEELQHLKQVLDGKEEVEKQHRENIKKLNSMVERQEKDLGRLQVDMDELEEKNRSIQAALDSAYKELTDLHKANAAKDSEAQEAALSREMKAKEELSAALEKAQEEARQQQETLAIQVGDLRLALQRTEQAAARKEDYLRHEIGELQQRLQEAENRNQELSQSVSSTTRPLLRQIENLQATLGSQTSSWEKLEKNLSDRLGESQTLLAAAVERERAATEELLANKIQMSSMESQNSLLRQENSRFQAQLESEKNRLCKLEDENNRYQVELENLKDEYVRTLEETRKEKTLLNSQLEMERMKVEQERKKAIFTQETIKEKERKPFSVSSTPTMSRSSSISGVDMAGLQTSFLSQDESHDHSFGPMPISANGSNLYDAVRMGAGSSIIENLQSQLKLREGEITHLQLEIGNLEKTRSIMAEELVKLTNQNDELEEKVKEIPKLRTQLRDLDQRYNTILQMYGEKAEEAEELRLDLEDVKNMYKTQIDELLRQSLS
UniProt ID: P82251
Variant: V -> M at position 40-40
Variant annotation: in CSNU; uncertain significance
Protein function: Involved in the high-affinity, sodium-independent transport of cystine and neutral and dibasic amino acids (system b(0,+)-like activity). Thought to be responsible for the high-affinity reabsorption of cystine in the kidney tubule.
Reference sequence:
MGDTGLRKRREDEKSIQSQEPKTTSLQKELGLISGISIIVGTIIGSGIFVSPKSVLSNTEAVGPCLIIWAACGVLATLGALCFAELGTMITKSGGEYPYLMEAYGPIPAYLFSWASLIVIKPTSFAIICLSFSEYVCAPFYVGCKPPQIVVKCLAAAAILFISTVNSLSVRLGSYVQNIFTAAKLVIVAIIIISGLVLLAQGNTKNFDNSFEGAQLSVGAISLAFYNGLWAYDGWNQLNYITEELRNPYRNLPLAIIIGIPLVTACYILMNVSYFTVMTATELLQSQAVAVTFGDRVLYPASWIVPLFVAFSTIGAANGTCFTAGRLIYVAGREGHMLKVLSYISVRRLTPAPAIIFYGIIATIYIIPGDINSLVNYFSFAAWLFYGLTILGLIVMRFTRKELERPIKVPVVIPVLMTLISVFLVLAPIISKPTWEYLYCVLFILSGLLFYFLFVHYKFGWAQKISKPITMHLQMLMEVVPPEEDPE