sujigwak/NVAR huggingface dataset:
UniProt ID: P33993
Variant: R -> Q at position 114-114
Variant annotation: in dbSNP:rs2307348
Protein function: Acts as component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built . The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity . Required for S-phase checkpoint activation upon UV-induced damage.
Reference sequence:
MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEHRLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQECQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESGAGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLRDSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRPDRDNDLRLAQHITYVHQHSRQPPSQFEPLDMKLMRRYIAMCREKQPMVPESLADYITAAYVEMRREAWASKDATYTSARTLLAILRLSTALARLRMVDVVEKEDVNEAIRLMEMSKDSLLGDKGQTARTQRPADVIFATVRELVSGGRSVRFSEAEQRCVSRGFTPAQFQAALDEYEELNVWQVNASRTRITFV
UniProt ID: P33993
Variant: N -> S at position 144-144
Variant annotation: in dbSNP:rs2070215
Protein function: Acts as component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built . The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity . Required for S-phase checkpoint activation upon UV-induced damage.
Reference sequence:
MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEHRLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQECQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESGAGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLRDSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRPDRDNDLRLAQHITYVHQHSRQPPSQFEPLDMKLMRRYIAMCREKQPMVPESLADYITAAYVEMRREAWASKDATYTSARTLLAILRLSTALARLRMVDVVEKEDVNEAIRLMEMSKDSLLGDKGQTARTQRPADVIFATVRELVSGGRSVRFSEAEQRCVSRGFTPAQFQAALDEYEELNVWQVNASRTRITFV
UniProt ID: P33993
Variant: G -> S at position 473-473
Variant annotation: in dbSNP:rs2307347
Protein function: Acts as component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built . The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity . Required for S-phase checkpoint activation upon UV-induced damage.
Reference sequence:
MALKDYALEKEKVKKFLQEFYQDDELGKKQFKYGNQLVRLAHREQVALYVDLDDVAEDDPELVDSICENARRYAKLFADAVQELLPQYKEREVVNKDVLDVYIEHRLMMEQRSRDPGMVRSPQNQYPAELMRRFELYFQGPSSNKPRVIREVRADSVGKLVTVRGIVTRVSEVKPKMVVATYTCDQCGAETYQPIQSPTFMPLIMCPSQECQTNRSGGRLYLQTRGSRFIKFQEMKMQEHSDQVPVGNIPRSITVLVEGENTRIAQPGDHVSVTGIFLPILRTGFRQVVQGLLSETYLEAHRIVKMNKSEDDESGAGELTREELRQIAEEDFYEKLAASIAPEIYGHEDVKKALLLLLVGGVDQSPRGMKIRGNINICLMGDPGVAKSQLLSYIDRLAPRSQYTTGRGSSGVGLTAAVLRDSVSGELTLEGGALVLADQGVCCIDEFDKMAEADRTAIHEVMEQQTISIAKAGILTTLNARCSILAAANPAYGRYNPRRSLEQNIQLPAALLSRFDLLWLIQDRPDRDNDLRLAQHITYVHQHSRQPPSQFEPLDMKLMRRYIAMCREKQPMVPESLADYITAAYVEMRREAWASKDATYTSARTLLAILRLSTALARLRMVDVVEKEDVNEAIRLMEMSKDSLLGDKGQTARTQRPADVIFATVRELVSGGRSVRFSEAEQRCVSRGFTPAQFQAALDEYEELNVWQVNASRTRITFV
UniProt ID: P34074
Variant: N -> V at position 28-28
Protein function: Binds with high affinity to muscular (alpha-1/CHRNA1) and neuronal (alpha-7/CHRNA7) nicotinic acetylcholine receptor (nAChR) and hinders acetylcholine binding to the receptor, thereby impairing neuromuscular and neuronal transmission.
Reference sequence:
IRCFITPRVSSQACPDGHVCYTKTWCDNFCGINGKRVDLGCAATCPTVKPGVDIKCCSTDNCNPFPTRKRP
UniProt ID: P34074
Variant: R -> A at position 36-36
Protein function: Binds with high affinity to muscular (alpha-1/CHRNA1) and neuronal (alpha-7/CHRNA7) nicotinic acetylcholine receptor (nAChR) and hinders acetylcholine binding to the receptor, thereby impairing neuromuscular and neuronal transmission.
Reference sequence:
IRCFITPRVSSQACPDGHVCYTKTWCDNFCGINGKRVDLGCAATCPTVKPGVDIKCCSTDNCNPFPTRKRP
UniProt ID: P34096
Variant: T -> S at position 16-16
Variant annotation: in dbSNP:rs3748338
Protein function: This RNase has marked specificity towards the 3' side of uridine nucleotides.
Reference sequence:
MALQRTHSLLLLLLLTLLGLGLVQPSYGQDGMYQRFLRQHVHPEETGGSDRYCNLMMQRRKMTLYHCKRFNTFIHEDIWNIRSICSTTNIQCKNGKMNCHEGVVKVTDCRDTGSSRAPNCRYRAIASTRRVVIACEGNPQVPVHFDG
UniProt ID: P34107
Variant: I -> T at position 94-94
Variant annotation: in strain: SAW 142
Protein function: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
Reference sequence:
MSFQLPQLPYAYNALEPHISKETLEFHHDKHHATYVNKLNGLVKGTEQEHKTLEELIKQKPTQAIYNNAAQAWNHAFYWKCMCGCGVKPSEQLIAKLTAAFGGLEEFKKKFTEKAVGHFGSGWCWLVEHDGKLEIIDTHDAVNPMTNGMKPLLTCDVWEHAYYIDTRNNRAAYLEHWWNVVNWKFVEEQL
UniProt ID: P34107
Variant: V -> I at position 142-142
Variant annotation: in strain: SAW 142
Protein function: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
Reference sequence:
MSFQLPQLPYAYNALEPHISKETLEFHHDKHHATYVNKLNGLVKGTEQEHKTLEELIKQKPTQAIYNNAAQAWNHAFYWKCMCGCGVKPSEQLIAKLTAAFGGLEEFKKKFTEKAVGHFGSGWCWLVEHDGKLEIIDTHDAVNPMTNGMKPLLTCDVWEHAYYIDTRNNRAAYLEHWWNVVNWKFVEEQL
UniProt ID: P34130
Variant: C -> Y at position 7-7
Variant annotation: in GLC1O; uncertain significance
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: E -> K at position 84-84
Variant annotation: in GLC1O; uncertain significance; dbSNP:rs756962734
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: A -> V at position 88-88
Variant annotation: in dbSNP:rs61732310
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: S -> N at position 89-89
Variant annotation: in dbSNP:rs374367338
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> C at position 90-90
Variant annotation: in dbSNP:rs751743400
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> H at position 90-90
Variant annotation: in GLC1O; uncertain significance; dbSNP:rs766504681
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> G at position 114-114
Variant annotation: in dbSNP:rs377553005
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> H at position 133-133
Variant annotation: in dbSNP:rs977260366
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> C at position 140-140
Variant annotation: in dbSNP:rs201069064
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> Q at position 206-206
Variant annotation: in GLC1O; uncertain significance; dbSNP:rs121918428
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> W at position 206-206
Variant annotation: in GLC1O; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth; dbSNP:rs121918427
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: T -> I at position 207-207
Variant annotation: in dbSNP:rs371861346
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: T -> S at position 207-207
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34130
Variant: R -> G at position 209-209
Variant annotation: in GLC1O; uncertain significance; dbSNP:rs200675509
Protein function: Target-derived survival factor for peripheral sensory sympathetic neurons.
Reference sequence:
MLPLPSCSLPILLLFLLPSVPIESQPPPSTLPPFLAPEWDLLSPRVVLSRGAPAGPPLLFLLEAGAFRESAGAPANRSRRGVSETAPASRRGELAVCDAVSGWVTDRRTAVDLRGREVEVLGEVPAAGGSPLRQYFFETRCKADNAEEGGPGAGGGGCRGVDRRHWVSECKAKQSYVRALTADAQGRVGWRWIRIDTACVCTLLSRTGRA
UniProt ID: P34691
Variant: T -> I at position 142-142
Variant annotation: in allele E2063
Protein function: Required for male development. In XO (male) animals, fem-3 directs male differentiation in all tissues. In XX (hermaphrodite) animals, it specifies the first 80 or so germ cells to be sperm. Negatively regulates male development when bound to tra-2. Together with fem-2 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1.
Reference sequence:
MEVDPGSDDVEADRETRAQKLKLKRNVKFRAQMRRFDEYCGVTNLTVDDLNWPLISGIPLQRQRLTGATYYDDSLLDQNPWDEFSIDRFLEITSIQLITAGAGYERNDEITRFVFQRTMKTIVTYCNFMYDLARRNGKVQITRFELQDLIHRDEFRFYMYFRQFLPNPDPNCTAFSNHYTSLLHTLYFNIPGMPQFWNNSQMYNYAATRGQRLVQNIAAFYPPEYFWNEDESKYHTTFVVPRGTEFSKFYARRFHEALGMPPLENEIITVLDWLAKLCILEIVYHTTIWCDITGFGGLPRIEHYRLAMENVEDIIFDLAIDDFSISRLQLQISPFEISRYSPLDVSGYYETIKRKKDIEEYQNRFYEVHYSDDVRIMNVYATDCSRKR
UniProt ID: P34691
Variant: M -> I at position 159-159
Variant annotation: in allele E2006
Protein function: Required for male development. In XO (male) animals, fem-3 directs male differentiation in all tissues. In XX (hermaphrodite) animals, it specifies the first 80 or so germ cells to be sperm. Negatively regulates male development when bound to tra-2. Together with fem-2 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1.
Reference sequence:
MEVDPGSDDVEADRETRAQKLKLKRNVKFRAQMRRFDEYCGVTNLTVDDLNWPLISGIPLQRQRLTGATYYDDSLLDQNPWDEFSIDRFLEITSIQLITAGAGYERNDEITRFVFQRTMKTIVTYCNFMYDLARRNGKVQITRFELQDLIHRDEFRFYMYFRQFLPNPDPNCTAFSNHYTSLLHTLYFNIPGMPQFWNNSQMYNYAATRGQRLVQNIAAFYPPEYFWNEDESKYHTTFVVPRGTEFSKFYARRFHEALGMPPLENEIITVLDWLAKLCILEIVYHTTIWCDITGFGGLPRIEHYRLAMENVEDIIFDLAIDDFSISRLQLQISPFEISRYSPLDVSGYYETIKRKKDIEEYQNRFYEVHYSDDVRIMNVYATDCSRKR
UniProt ID: P34691
Variant: P -> S at position 299-299
Variant annotation: in allele Q77
Protein function: Required for male development. In XO (male) animals, fem-3 directs male differentiation in all tissues. In XX (hermaphrodite) animals, it specifies the first 80 or so germ cells to be sperm. Negatively regulates male development when bound to tra-2. Together with fem-2 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1.
Reference sequence:
MEVDPGSDDVEADRETRAQKLKLKRNVKFRAQMRRFDEYCGVTNLTVDDLNWPLISGIPLQRQRLTGATYYDDSLLDQNPWDEFSIDRFLEITSIQLITAGAGYERNDEITRFVFQRTMKTIVTYCNFMYDLARRNGKVQITRFELQDLIHRDEFRFYMYFRQFLPNPDPNCTAFSNHYTSLLHTLYFNIPGMPQFWNNSQMYNYAATRGQRLVQNIAAFYPPEYFWNEDESKYHTTFVVPRGTEFSKFYARRFHEALGMPPLENEIITVLDWLAKLCILEIVYHTTIWCDITGFGGLPRIEHYRLAMENVEDIIFDLAIDDFSISRLQLQISPFEISRYSPLDVSGYYETIKRKKDIEEYQNRFYEVHYSDDVRIMNVYATDCSRKR
UniProt ID: P34691
Variant: E -> K at position 360-360
Variant annotation: in allele E2143
Protein function: Required for male development. In XO (male) animals, fem-3 directs male differentiation in all tissues. In XX (hermaphrodite) animals, it specifies the first 80 or so germ cells to be sperm. Negatively regulates male development when bound to tra-2. Together with fem-2 associates with the CBC(fem-1) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of tra-1.
Reference sequence:
MEVDPGSDDVEADRETRAQKLKLKRNVKFRAQMRRFDEYCGVTNLTVDDLNWPLISGIPLQRQRLTGATYYDDSLLDQNPWDEFSIDRFLEITSIQLITAGAGYERNDEITRFVFQRTMKTIVTYCNFMYDLARRNGKVQITRFELQDLIHRDEFRFYMYFRQFLPNPDPNCTAFSNHYTSLLHTLYFNIPGMPQFWNNSQMYNYAATRGQRLVQNIAAFYPPEYFWNEDESKYHTTFVVPRGTEFSKFYARRFHEALGMPPLENEIITVLDWLAKLCILEIVYHTTIWCDITGFGGLPRIEHYRLAMENVEDIIFDLAIDDFSISRLQLQISPFEISRYSPLDVSGYYETIKRKKDIEEYQNRFYEVHYSDDVRIMNVYATDCSRKR
UniProt ID: P34896
Variant: E -> Q at position 340-340
Variant annotation: in dbSNP:rs7215148
Protein function: Interconversion of serine and glycine .
Reference sequence:
MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQRVGLELIASENFASRAVLEALGSCLNNKYSEGYPGQRYYGGTEFIDELETLCQKRALQAYKLDPQCWGVNVQPYSGSPANFAVYTALVEPHGRIMGLDLPDGGHLTHGFMTDKKKISATSIFFESMPYKVNPDTGYINYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIADENGAYLMADMAHISGLVAAGVVPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSVDPKTGKEILYNLESLINSAVFPGLQGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVANCRALSEALTELGYKIVTGGSDNHLILVDLRSKGTDGGRAEKVLEACSIACNKNTCPGDRSALRPSGLRLGTPALTSRGLLEKDFQKVAHFIHRGIELTLQIQSDTGVRATLKEFKERLAGDKYQAAVQALREEVESFASLFPLPGLPDF
UniProt ID: P34896
Variant: L -> F at position 474-474
Variant annotation: in dbSNP:rs1979277
Protein function: Interconversion of serine and glycine .
Reference sequence:
MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQRVGLELIASENFASRAVLEALGSCLNNKYSEGYPGQRYYGGTEFIDELETLCQKRALQAYKLDPQCWGVNVQPYSGSPANFAVYTALVEPHGRIMGLDLPDGGHLTHGFMTDKKKISATSIFFESMPYKVNPDTGYINYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIADENGAYLMADMAHISGLVAAGVVPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSVDPKTGKEILYNLESLINSAVFPGLQGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVANCRALSEALTELGYKIVTGGSDNHLILVDLRSKGTDGGRAEKVLEACSIACNKNTCPGDRSALRPSGLRLGTPALTSRGLLEKDFQKVAHFIHRGIELTLQIQSDTGVRATLKEFKERLAGDKYQAAVQALREEVESFASLFPLPGLPDF
UniProt ID: P34897
Variant: P -> S at position 157-157
Variant annotation: in NEDCASB; uncertain significance; dbSNP:rs1426413125
Protein function: Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis . Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate . Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA . Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs . Associates with mitochondrial DNA . In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex .
Reference sequence:
MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGFDEH
UniProt ID: P34897
Variant: T -> R at position 186-186
Variant annotation: in NEDCASB; uncertain significance; dbSNP:rs769908186
Protein function: Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis . Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate . Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA . Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs . Associates with mitochondrial DNA . In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex .
Reference sequence:
MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGFDEH
UniProt ID: P34897
Variant: N -> D at position 379-379
Variant annotation: in NEDCASB; uncertain significance; dbSNP:rs2037432429
Protein function: Catalyzes the cleavage of serine to glycine accompanied with the production of 5,10-methylenetetrahydrofolate, an essential intermediate for purine biosynthesis . Serine provides the major source of folate one-carbon in cells by catalyzing the transfer of one carbon from serine to tetrahydrofolate . Contributes to the de novo mitochondrial thymidylate biosynthesis pathway via its role in glycine and tetrahydrofolate metabolism: thymidylate biosynthesis is required to prevent uracil accumulation in mtDNA . Also required for mitochondrial translation by producing 5,10-methylenetetrahydrofolate; 5,10-methylenetetrahydrofolate providing methyl donors to produce the taurinomethyluridine base at the wobble position of some mitochondrial tRNAs . Associates with mitochondrial DNA . In addition to its role in mitochondria, also plays a role in the deubiquitination of target proteins as component of the BRISC complex: required for IFNAR1 deubiquitination by the BRISC complex .
Reference sequence:
MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGFDEH