sujigwak/NVAR huggingface dataset:
UniProt ID: P40068
Variant: A -> T at position 441-441
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40068
Variant: A -> V at position 447-447
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40068
Variant: R -> P at position 598-598
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40091
Variant: H -> R at position 90-90
Variant annotation: in strain: CLIB 219
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: M -> T at position 117-117
Variant annotation: in strain: CLIB 630
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: K -> T at position 157-157
Variant annotation: in strain: CLIB 219
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: G -> S at position 161-161
Variant annotation: in strain: CLIB 630
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: T -> I at position 165-165
Variant annotation: in strain: CLIB 630
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: D -> N at position 171-171
Variant annotation: in strain: CLIB 630
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: Q -> L at position 189-189
Variant annotation: in strain: CLIB 382
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: I -> M at position 210-210
Variant annotation: in strain: CLIB 413 haplotype Ha2
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: E -> K at position 249-249
Variant annotation: in strain: CLIB 556
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: S -> R at position 253-253
Variant annotation: in strain: Sigma 1278B
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: S -> N at position 325-325
Variant annotation: in strain: CLIB 219
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: G -> S at position 355-355
Variant annotation: in strain: R12
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: S -> L at position 384-384
Variant annotation: in strain: CLIB 219
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40091
Variant: L -> M at position 409-409
Variant annotation: in strain: CLIB 410, CLIB 413 and Sigma 1278B
Protein function: Localized to sites of polarized growth and is required for efficient mating and bipolar budding.
Reference sequence:
MHKFDLELSRRANPLLFSAERYEEYPLKYDELKQYLLSQNPSHPHHNSRPYTSIDYFDYLLYRSKNDESEIDLDKKLVSEFALYYVQKEHLNSDDLNPTLNELLKLQPKSADWYEMMLRILESINTTGIDQLTKENNNSFPNSKRARSSTNMGGTDKFNKGAYHTDKADDDKNEILQELTSFLMSNSIQKGIDIKPIPLDDPVKFLKNGINSILDTCVSLEKNTSSPPISPNAAAIQEEDSSKKLEELETAFSDLQLAHNFLTKQFENDRAEYVQDIEKLTRTNRELQDKLLNNHSNLSKTEKKLHELEQENKELEKANNKLNSSRHNFGMSSPASSPVTWDPSSPSSVGSPTSGSGSRSLSIMTSEFKKVLTSTQRKYEKELSDEREHRFKLERELALLKNAEANTSLALNRDDPPDML
UniProt ID: P40121
Variant: V -> I at position 41-41
Variant annotation: in dbSNP:rs2229668
Protein function: Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA.
Reference sequence:
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQGNESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDSERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRKANEKERQAALQVAEGFISRMQYAPNTQVEILPQGHESPIFKQFFKDWK
UniProt ID: P40121
Variant: R -> W at position 198-198
Variant annotation: in dbSNP:rs11539103
Protein function: Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA.
Reference sequence:
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQGNESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDSERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRKANEKERQAALQVAEGFISRMQYAPNTQVEILPQGHESPIFKQFFKDWK
UniProt ID: P40121
Variant: H -> R at position 335-335
Variant annotation: in dbSNP:rs6886
Protein function: Calcium-sensitive protein which reversibly blocks the barbed ends of actin filaments but does not sever preformed actin filaments. May play an important role in macrophage function. May play a role in regulating cytoplasmic and/or nuclear structures through potential interactions with actin. May bind DNA.
Reference sequence:
MYTAIPQSGSPFPGSVQDPGLHVWRVEKLKPVPVAQENQGVFFSGDSYLVLHNGPEEVSHLHLWIGQQSSRDEQGACAVLAVHLNTLLGERPVQHREVQGNESDLFMSYFPRGLKYQEGGVESAFHKTSTGAPAAIKKLYQVKGKKNIRATERALNWDSFNTGDCFILDLGQNIFAWCGGKSNILERNKARDLALAIRDSERQGKAQVEIVTDGEEPAEMIQVLGPKPALKEGNPEEDLTADKANAQAAALYKVSDATGQMNLTKVADSSPFALELLISDDCFVLDNGLCGKIYIWKGRKANEKERQAALQVAEGFISRMQYAPNTQVEILPQGHESPIFKQFFKDWK
UniProt ID: P40123
Variant: T -> A at position 311-311
Variant annotation: in dbSNP:rs34620829
Protein function: May have a regulatory bifunctional role.
Reference sequence:
MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEFLKNSRILAGDVETHAEMVHSAFQAQRAFLLMASQYQQPHENDVAALLKPISEKIQEIQTFRERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLRHVDWVKSYLNIWSELQAYIKEHHTTGLTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPPPGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQGGQTQSPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCEKSTIQIKGKVNSIIIDNCKKLGLVFDNVVGIVEVINSQDIQIQVMGRVPTISINKTEGCHIYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEIMA
UniProt ID: P40123
Variant: Y -> C at position 316-316
Variant annotation: in dbSNP:rs34206659
Protein function: May have a regulatory bifunctional role.
Reference sequence:
MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEFLKNSRILAGDVETHAEMVHSAFQAQRAFLLMASQYQQPHENDVAALLKPISEKIQEIQTFRERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLRHVDWVKSYLNIWSELQAYIKEHHTTGLTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPPPGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQGGQTQSPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCEKSTIQIKGKVNSIIIDNCKKLGLVFDNVVGIVEVINSQDIQIQVMGRVPTISINKTEGCHIYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEIMA
UniProt ID: P40189
Variant: L -> V at position 8-8
Variant annotation: in dbSNP:rs1063560
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ
UniProt ID: P40189
Variant: G -> R at position 148-148
Variant annotation: correlated with increased levels of soluble IL6RB in blood serum; dbSNP:rs2228044
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ
UniProt ID: P40189
Variant: A -> G at position 200-200
Variant annotation: found in patient with lung cancer; uncertain significance; dbSNP:rs199905033
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ
UniProt ID: P40189
Variant: L -> V at position 397-397
Variant annotation: in dbSNP:rs2228043
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ
UniProt ID: P40189
Variant: N -> Y at position 404-404
Variant annotation: in HIES4B; results in defective cytokine-mediated signaling pathway with loss of response to IL-6, IL-11, IL-27, OSM but not LIF
Effect: loss
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ
UniProt ID: P40189
Variant: T -> I at position 415-415
Variant annotation: in a colorectal cancer sample; somatic mutation
Protein function: Binds to the soluble IL6:sIL6R complex (hyper-IL6), thereby blocking IL6 trans-signaling. Inhibits sIL6R-dependent acute phase response . Also blocks IL11 cluster signaling through IL11R .
Reference sequence:
MLTLQTWLVQALFIFLTTESTGELLDPCGYISPESPVVQLHSNFTAVCVLKEKCMDYFHVNANYIVWKTNHFTIPKEQYTIINRTASSVTFTDIASLNIQLTCNILTFGQLEQNVYGITIISGLPPEKPKNLSCIVNEGKKMRCEWDGGRETHLETNFTLKSEWATHKFADCKAKRDTPTSCTVDYSTVYFVNIEVWVEAENALGKVTSDHINFDPVYKVKPNPPHNLSVINSEELSSILKLTWTNPSIKSVIILKYNIQYRTKDASTWSQIPPEDTASTRSSFTVQDLKPFTEYVFRIRCMKEDGKGYWSDWSEEASGITYEDRPSKAPSFWYKIDPSHTQGYRTVQLVWKTLPPFEANGKILDYEVTLTRWKSHLQNYTVNATKLTVNLTNDRYLATLTVRNLVGKSDAAVLTIPACDFQATHPVMDLKAFPKDNMLWVEWTTPRESVKKYILEWCVLSDKAPCITDWQQEDGTVHRTYLRGNLAESKCYLITVTPVYADGPGSPESIKAYLKQAPPSKGPTVRTKKVGKNEAVLEWDQLPVDVQNGFIRNYTIFYRTIIGNETAVNVDSSHTEYTLSSLTSDTLYMVRMAAYTDEGGKDGPEFTFTTPKFAQGEIEAIVVPVCLAFLLTTLLGVLFCFNKRDLIKKHIWPNVPDPSKSHIAQWSPHTPPRHNFNSKDQMYSDGNFTDVSVVEIEANDKKPFPEDLKSLDLFKKEKINTEGHSSGIGGSSCMSSSRPSISSSDENESSQNTSSTVQYSTVVHSGYRHQVPSVQVFSRSESTQPLLDSEERPEDLQLVDHVDGGDGILPRQQYFKQNCSQHESSPDISHFERSKQVSSVNEEDFVRLKQQISDHISQSCGSGQMKMFQEVSAADAFGPGTEGQVERFETVGMEAATDEGMPKSYLPQTVRQGGYMPQ