sujigwak/NVAR huggingface dataset:
UniProt ID: P18510
Variant: A -> T at position 124-124
Variant annotation: in dbSNP:rs45507693
Protein function: Anti-inflammatory antagonist of interleukin-1 family of proinflammatory cytokines such as interleukin-1beta/IL1B and interleukin-1alpha/IL1A. Protects from immune dysregulation and uncontrolled systemic inflammation triggered by IL1 for a range of innate stimulatory agents such as pathogens.
Reference sequence:
MEICRGLRSHLITLLLFLFHSETICRPSGRKSSKMQAFRIWDVNQKTFYLRNNQLVAGYLQGPNVNLEEKIDVVPIEPHALFLGIHGGKMCLSCVKSGDETRLQLEAVNITDLSENRKQDKRFAFIRSDSGPTTSFESAACPGWFLCTAMEADQPVSLTNMPDEGVMVTKFYFQEDE
UniProt ID: P18545
Variant: P -> H at position 27-27
Protein function: Participates in processes of transmission and amplification of the visual signal. cGMP-PDEs are the effector molecules in G-protein-mediated phototransduction in vertebrate rods and cones.
Reference sequence:
MNLEPPKAEFRSATRVAGGPVTPRKGPPKFKQRQTRQFKSKPPKKGVQGFGDDIPGMEGLGTDITVICPWEAFNHLELHELAQYGII
UniProt ID: P18626
Variant: H -> I at position 23-23
Variant annotation: in variant C
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18626
Variant: P -> L at position 31-31
Variant annotation: in variant A
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18626
Variant: E -> Q at position 92-92
Variant annotation: in variant A
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18626
Variant: R -> K at position 115-115
Variant annotation: in variants E and C
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18626
Variant: T -> A at position 209-209
Variant annotation: in variant E
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18626
Variant: T -> A at position 210-210
Variant annotation: in variants E and C
Protein function: Important role in the capacity of milk to transport calcium phosphate.
Reference sequence:
MKLLILTCLVAVALARPKHPINHRGLSPEVPNENLLRFVVAPFPEVFRKENINELSKDIGSESTEDQAMEDAKQMKAGSSSSSEEIVPNSAEQKYIQKEDVPSERYLGYLEQLLRLKKYNVPQLEIVPKSAEEQLHSMKEGNPAHQKQPMIAVNQELAYFYPQLFRQFYQLDAYPSGAWYYLPLGTQYTDAPSFSDIPNPIGSENSGKTTMPLW
UniProt ID: P18627
Variant: I -> T at position 455-455
Variant annotation: in dbSNP:rs870849
Protein function: May function as a ligand for MHC class II (MHC-II) on antigen-presenting cells (APC), promoting APC activation/maturation and driving Th1 immune response.
Reference sequence:
MWEAQFLGLLFLQPLWVAPVKPLQPGAEVPVVWAQEGAPAQLPCSPTIPLQDLSLLRRAGVTWQHQPDSGPPAAAPGHPLAPGPHPAAPSSWGPRPRRYTVLSVGPGGLRSGRLPLQPRVQLDERGRQRGDFSLWLRPARRADAGEYRAAVHLRDRALSCRLRLRLGQASMTASPPGSLRASDWVILNCSFSRPDRPASVHWFRNRGQGRVPVRESPHHHLAESFLFLPQVSPMDSGPWGCILTYRDGFNVSIMYNLTVLGLEPPTPLTVYAGAGSRVGLPCRLPAGVGTRSFLTAKWTPPGGGPDLLVTGDNGDFTLRLEDVSQAQAGTYTCHIHLQEQQLNATVTLAIITVTPKSFGSPGSLGKLLCEVTPVSGQERFVWSSLDTPSQRSFSGPWLEAQEAQLLSQPWQCQLYQGERLLGAAVYFTELSSPGAQRSGRAPGALPAGHLLLFLILGVLSLLLLVTGAFGFHLWRRQWRPRRFSALEQGIHPPQAQSKIEELEQEPEPEPEPEPEPEPEPEPEQL
UniProt ID: P18674
Variant: T -> V at position 31-31
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: K -> T at position 52-52
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: E -> D at position 59-59
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: V -> I at position 72-72
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: I -> V at position 81-81
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: N -> Q at position 110-110
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18674
Variant: L -> G at position 112-112
Variant annotation: in minor forms
Protein function: D-galactose-specific lectin, binds the T-antigen structure Gal-beta1,3-GalNAc.
Reference sequence:
GVTFDDGAYTGIREINFEYNSETAIGGLRVTYDLNGMPFVAEDHKSFITGFKPVKISLEFPSEYIVEVSGYVGKVEGYTVIRSLTFKTNKQTYGPYGVTNGTPFSLPIENGLIVGFKGSIGYWLDYFSIYLSL
UniProt ID: P18684
Variant: I -> L at position 9-9
Protein function: Has activity against E.coli.
Reference sequence:
MKLFYLLVICALSLAVMADEKPKLILPTPAPPNLPQLVGGGGGNRKDGFGVSVDAHQKVWTSDNGRHSIGVTPGYSQHLGGPYGNSRPDYRIGAGYSYNFG
UniProt ID: P18684
Variant: P -> T at position 35-35
Protein function: Has activity against E.coli.
Reference sequence:
MKLFYLLVICALSLAVMADEKPKLILPTPAPPNLPQLVGGGGGNRKDGFGVSVDAHQKVWTSDNGRHSIGVTPGYSQHLGGPYGNSRPDYRIGAGYSYNFG
UniProt ID: P18725
Variant: E -> D at position 76-76
Variant annotation: in 5-1
Protein function: Binds to RNA homomers.
Reference sequence:
MLQIKTEKEELDCGDDQNPKESSAVPLTDGASPEPQPQILQIKIKEEEPDYEYYLPTIKREMDPVPGAASPLAESEILQIKIKEEEPDSEDDGNSAATSAVTFRDWDNCWSDEENWDDSRPQLNQYNSDFPGSADTANTPAINTVLSRGNGLFVVNQEKRVATNSSCQSDTGHVDCSVGSEPSGFICCKCGDSFAHHSDLHTHLYACAGHNITSSFTNASEEGQHSHKNGGVLPREKPFKCTVCGKCFTLKNSLQLHHRIHTGEKPFTCTECGKSFAQSCSLQLHSRTHTGYNPYVCTECGKRFSSNSGLRRHMRTHTGVKPYACKECGKFFSDLSTLHRHQNSHKGEKPFICTECGKGFTLKDSLHRHQRTHTGEKPFICSQCGKSYSQSSNLIKHQMIHTGVKPFSCSECGKCFAVKDGLRNHQRVHMRRNYSAAQNVAEFSL
UniProt ID: P18725
Variant: F -> S at position 103-103
Variant annotation: in 5-1
Protein function: Binds to RNA homomers.
Reference sequence:
MLQIKTEKEELDCGDDQNPKESSAVPLTDGASPEPQPQILQIKIKEEEPDYEYYLPTIKREMDPVPGAASPLAESEILQIKIKEEEPDSEDDGNSAATSAVTFRDWDNCWSDEENWDDSRPQLNQYNSDFPGSADTANTPAINTVLSRGNGLFVVNQEKRVATNSSCQSDTGHVDCSVGSEPSGFICCKCGDSFAHHSDLHTHLYACAGHNITSSFTNASEEGQHSHKNGGVLPREKPFKCTVCGKCFTLKNSLQLHHRIHTGEKPFTCTECGKSFAQSCSLQLHSRTHTGYNPYVCTECGKRFSSNSGLRRHMRTHTGVKPYACKECGKFFSDLSTLHRHQNSHKGEKPFICTECGKGFTLKDSLHRHQRTHTGEKPFICSQCGKSYSQSSNLIKHQMIHTGVKPFSCSECGKCFAVKDGLRNHQRVHMRRNYSAAQNVAEFSL
UniProt ID: P18725
Variant: A -> S at position 195-195
Variant annotation: in 5-1
Protein function: Binds to RNA homomers.
Reference sequence:
MLQIKTEKEELDCGDDQNPKESSAVPLTDGASPEPQPQILQIKIKEEEPDYEYYLPTIKREMDPVPGAASPLAESEILQIKIKEEEPDSEDDGNSAATSAVTFRDWDNCWSDEENWDDSRPQLNQYNSDFPGSADTANTPAINTVLSRGNGLFVVNQEKRVATNSSCQSDTGHVDCSVGSEPSGFICCKCGDSFAHHSDLHTHLYACAGHNITSSFTNASEEGQHSHKNGGVLPREKPFKCTVCGKCFTLKNSLQLHHRIHTGEKPFTCTECGKSFAQSCSLQLHSRTHTGYNPYVCTECGKRFSSNSGLRRHMRTHTGVKPYACKECGKFFSDLSTLHRHQNSHKGEKPFICTECGKGFTLKDSLHRHQRTHTGEKPFICSQCGKSYSQSSNLIKHQMIHTGVKPFSCSECGKCFAVKDGLRNHQRVHMRRNYSAAQNVAEFSL
UniProt ID: P18827
Variant: T -> M at position 76-76
Variant annotation: in dbSNP:rs2230922
Protein function: Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP .
Reference sequence:
MRRAALWLWLCALALSLQPALPQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPTSPEPTGLEATAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPGHHETSTPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGATGASQGLLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA
UniProt ID: P18827
Variant: L -> Q at position 136-136
Variant annotation: in dbSNP:rs10205485
Protein function: Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix. Regulates exosome biogenesis in concert with SDCBP and PDCD6IP .
Reference sequence:
MRRAALWLWLCALALSLQPALPQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPTSPEPTGLEATAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPGHHETSTPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGATGASQGLLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA
UniProt ID: P18846
Variant: P -> A at position 191-191
Variant annotation: in dbSNP:rs2230674
Protein function: This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation.
Reference sequence:
MEDSHKSTTSETAPQPGSAVQGAHISHIAQQVSSLSESEESQDSSDSIGSSQKAHGILARRPSYRKILKDLSSEDTRGRKGDGENSGVSAAVTSMSVPTPIYQTSSGQYIAIAPNGALQLASPGTDGVQGLQTLTMTNSGSTQQGTTILQYAQTSDGQQILVPSNQVVVQTASGDMQTYQIRTTPSATSLPQTVVMTSPVTLTSQTTKTDDPQLKREIRLMKNREAARECRRKKKEYVKCLENRVAVLENQNKTLIEELKTLKDLYSNKSV
UniProt ID: P18847
Variant: T -> M at position 38-38
Variant annotation: in dbSNP:rs11571541
Protein function: Stress-induced isoform, counteracts the transcriptional repression of isoform 1.
Reference sequence:
MMLQHPGQVSASEVSASAIVPCLSPPGSLVFEDFANLTPFVKEELRFAIQNKHLCHRMSSALESVTVSDRPLGVSITKAEVAPEEDERKKRRRERNKIAAAKCRNKKKEKTECLQKESEKLESVNAELKAQIEELKNEKQHLIYMLNLHRPTCIVRAQNGRTPEDERNLFIQQIKEGTLQS
UniProt ID: P18847
Variant: N -> T at position 168-168
Variant annotation: found in a patient with childhood apraxia of speech; uncertain significance
Protein function: Stress-induced isoform, counteracts the transcriptional repression of isoform 1.
Reference sequence:
MMLQHPGQVSASEVSASAIVPCLSPPGSLVFEDFANLTPFVKEELRFAIQNKHLCHRMSSALESVTVSDRPLGVSITKAEVAPEEDERKKRRRERNKIAAAKCRNKKKEKTECLQKESEKLESVNAELKAQIEELKNEKQHLIYMLNLHRPTCIVRAQNGRTPEDERNLFIQQIKEGTLQS
UniProt ID: P18848
Variant: Q -> P at position 22-22
Variant annotation: in dbSNP:rs4894
Protein function: (Microbial infection) Binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I.
Reference sequence:
MTEMSFLSSEVLVGDLMSPFDQSGLGAEESLGLLDDYLEVAKHFKPHGFSSDKAKAGSSEWLAVDGLVSPSNNSKEDAFSGTDWMLEKMDLKEFDLDALLGIDDLETMPDDLLTTLDDTCDLFAPLVQETNKQPPQTVNPIGHLPESLTKPDQVAPFTFLQPLPLSPGVLSSTPDHSFSLELGSEVDITEGDRKPDYTAYVAMIPQCIKEEDTPSDNDSGICMSPESYLGSPQHSPSTRGSPNRSLPSPGVLCGSARPKPYDPPGEKMVAAKVKGEKLDKKLKKMEQNKTAATRYRQKKRAEQEALTGECKELEKKNEALKERADSLAKEIQYLKDLIEEVRKARGKKRVP
UniProt ID: P18848
Variant: P -> A at position 258-258
Variant annotation: in dbSNP:rs1803323
Protein function: (Microbial infection) Binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I.
Reference sequence:
MTEMSFLSSEVLVGDLMSPFDQSGLGAEESLGLLDDYLEVAKHFKPHGFSSDKAKAGSSEWLAVDGLVSPSNNSKEDAFSGTDWMLEKMDLKEFDLDALLGIDDLETMPDDLLTTLDDTCDLFAPLVQETNKQPPQTVNPIGHLPESLTKPDQVAPFTFLQPLPLSPGVLSSTPDHSFSLELGSEVDITEGDRKPDYTAYVAMIPQCIKEEDTPSDNDSGICMSPESYLGSPQHSPSTRGSPNRSLPSPGVLCGSARPKPYDPPGEKMVAAKVKGEKLDKKLKKMEQNKTAATRYRQKKRAEQEALTGECKELEKKNEALKERADSLAKEIQYLKDLIEEVRKARGKKRVP
UniProt ID: P18848
Variant: E -> D at position 322-322
Variant annotation: in dbSNP:rs1803324
Protein function: (Microbial infection) Binds to a Tax-responsive enhancer element in the long terminal repeat of HTLV-I.
Reference sequence:
MTEMSFLSSEVLVGDLMSPFDQSGLGAEESLGLLDDYLEVAKHFKPHGFSSDKAKAGSSEWLAVDGLVSPSNNSKEDAFSGTDWMLEKMDLKEFDLDALLGIDDLETMPDDLLTTLDDTCDLFAPLVQETNKQPPQTVNPIGHLPESLTKPDQVAPFTFLQPLPLSPGVLSSTPDHSFSLELGSEVDITEGDRKPDYTAYVAMIPQCIKEEDTPSDNDSGICMSPESYLGSPQHSPSTRGSPNRSLPSPGVLCGSARPKPYDPPGEKMVAAKVKGEKLDKKLKKMEQNKTAATRYRQKKRAEQEALTGECKELEKKNEALKERADSLAKEIQYLKDLIEEVRKARGKKRVP
UniProt ID: P18850
Variant: M -> L at position 67-67
Variant annotation: in dbSNP:rs1058405
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18850
Variant: M -> V at position 67-67
Variant annotation: in dbSNP:rs1058405
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18850
Variant: A -> P at position 145-145
Variant annotation: in dbSNP:rs2070150
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18850
Variant: P -> S at position 157-157
Variant annotation: in dbSNP:rs1135983
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18850
Variant: R -> C at position 324-324
Variant annotation: in ACHM7; reduced ATF6-mediated unfolded protein response; dbSNP:rs761357250
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18850
Variant: Y -> N at position 567-567
Variant annotation: in ACHM7; dbSNP:rs796065053
Protein function: Transcription factor that initiates the unfolded protein response (UPR) during endoplasmic reticulum stress by activating transcription of genes involved in the UPR . Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3') . Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor . May play a role in foveal development and cone function in the retina .
Reference sequence:
MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEPQPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQPKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVVNVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDIAVLRRQQRMIKNRESACQSRKKKKEYMLGLEARLKAALSENEQLKKENGTLKRQLDEVVSENQRLKVPSPKRRVVCVMIVLAFIILNYGPMSMLEQDSRRMNPSVSPANQRRHLLGFSAKEAQDTSDGIIQKNSYRYDHSVSNDKALMVLTEEPLLYIPPPPCQPLINTTESLRLNHELRGWVHRHEVERTKSRRMTNNQQKTRILQGALEQGSNSQLMAVQYTETTSSISRNSGSELQVYYASPRSYQDFFEAIRRRGDTFYVVSFRRDHLLLPATTHNKTTRPKMSIVLPAININENVINGQDYEVMMQIDCQVMDTRILHIKSSSVPPYLRDQQRNQTNTFFGSPPAATEATHVVSTIPESLQ
UniProt ID: P18858
Variant: A -> V at position 24-24
Variant annotation: in dbSNP:rs3730855
Protein function: DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair.
Reference sequence:
MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNASLSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPRRAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIEEVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGLERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPDIISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPLSRRRQLLRENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSHNWLKLKKDYLDGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGTGFSDEELEEHHQSLKALVLPSPRPYVRIDGAVIPDHWLDPSAVWEVKCADLSLSPIYPAARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQSQIQNQQGEDSGSDPEDTY
UniProt ID: P18858
Variant: P -> L at position 52-52
Variant annotation: in dbSNP:rs4987181
Protein function: DNA ligase that seals nicks in double-stranded DNA during DNA replication, DNA recombination and DNA repair.
Reference sequence:
MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKAARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNASLSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPRRAPKTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIEEVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGLERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPDIISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPLSRRRQLLRENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSHNWLKLKKDYLDGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGTGFSDEELEEHHQSLKALVLPSPRPYVRIDGAVIPDHWLDPSAVWEVKCADLSLSPIYPAARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQSQIQNQQGEDSGSDPEDTY