sujigwak/NVAR huggingface dataset:
UniProt ID: P12882
Variant: V -> M at position 1598-1598
Variant annotation: in a breast cancer sample; somatic mutation; dbSNP:rs150456818
Protein function: Muscle contraction.
Reference sequence:
MSSDSEMAIFGEAAPFLRKSERERIEAQNKPFDAKTSVFVVDPKESFVKATVQSREGGKVTAKTEAGATVTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEVTSGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQIMSNKKPDLIEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIEILGFTSDERVSIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQNLNSADLLKALCYPRVKVGNEYVTKGQTVQQVYNAVGALAKAVYDKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYEQHLGKSNNFQKPKPAKGKPEAHFSLIHYAGTVDYNIAGWLDKNKDPLNETVVGLYQKSAMKTLALLFVGATGAEAEAGGGKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLLGSIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDEKLAQLITRTQAMCRGFLARVEYQKMVERRESIFCIQYNVRAFMNVKHWPWMKLYFKIKPLLKSAETEKEMANMKEEFEKTKEELAKTEAKRKELEEKMVTLMQEKNDLQLQVQAEADSLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKIRMDLERAKRKLEGDLKLAQESTMDIENDKQQLDEKLKKKEFEMSGLQSKIEDEQALGMQLQKKIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNMETVSKAKGNLEKMCRALEDQLSEIKTKEEEQQRLINDLTAQRARLQTESGEYSRQLDEKDTLVSQLSRGKQAFTQQIEELKRQLEEEIKAKSALAHALQSSRHDCDLLREQYEEEQEAKAELQRAMSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEHVEAVNAKCASLEKTKQRLQNEVEDLMIDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKESRSLSTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKSELQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQMKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQAILKDTQLHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQIQGEMEDIIQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNVEAVKGLRKHERKVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNVNLSKFRRIQHELEEAEERADIAESQVNKLRVKSREVHTKIISEE
UniProt ID: P12882
Variant: R -> C at position 1716-1716
Variant annotation: in dbSNP:rs1077841
Protein function: Muscle contraction.
Reference sequence:
MSSDSEMAIFGEAAPFLRKSERERIEAQNKPFDAKTSVFVVDPKESFVKATVQSREGGKVTAKTEAGATVTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEVTSGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQIMSNKKPDLIEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIEILGFTSDERVSIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQNLNSADLLKALCYPRVKVGNEYVTKGQTVQQVYNAVGALAKAVYDKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYEQHLGKSNNFQKPKPAKGKPEAHFSLIHYAGTVDYNIAGWLDKNKDPLNETVVGLYQKSAMKTLALLFVGATGAEAEAGGGKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLLGSIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDEKLAQLITRTQAMCRGFLARVEYQKMVERRESIFCIQYNVRAFMNVKHWPWMKLYFKIKPLLKSAETEKEMANMKEEFEKTKEELAKTEAKRKELEEKMVTLMQEKNDLQLQVQAEADSLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKIRMDLERAKRKLEGDLKLAQESTMDIENDKQQLDEKLKKKEFEMSGLQSKIEDEQALGMQLQKKIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNMETVSKAKGNLEKMCRALEDQLSEIKTKEEEQQRLINDLTAQRARLQTESGEYSRQLDEKDTLVSQLSRGKQAFTQQIEELKRQLEEEIKAKSALAHALQSSRHDCDLLREQYEEEQEAKAELQRAMSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEHVEAVNAKCASLEKTKQRLQNEVEDLMIDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKESRSLSTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKSELQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQMKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQAILKDTQLHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQIQGEMEDIIQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNVEAVKGLRKHERKVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNVNLSKFRRIQHELEEAEERADIAESQVNKLRVKSREVHTKIISEE
UniProt ID: P12882
Variant: Q -> K at position 1806-1806
Variant annotation: found in autosomal recessive deafness; uncertain significance
Protein function: Muscle contraction.
Reference sequence:
MSSDSEMAIFGEAAPFLRKSERERIEAQNKPFDAKTSVFVVDPKESFVKATVQSREGGKVTAKTEAGATVTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEVTSGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQIMSNKKPDLIEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIEILGFTSDERVSIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQNLNSADLLKALCYPRVKVGNEYVTKGQTVQQVYNAVGALAKAVYDKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYEQHLGKSNNFQKPKPAKGKPEAHFSLIHYAGTVDYNIAGWLDKNKDPLNETVVGLYQKSAMKTLALLFVGATGAEAEAGGGKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLLGSIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDEKLAQLITRTQAMCRGFLARVEYQKMVERRESIFCIQYNVRAFMNVKHWPWMKLYFKIKPLLKSAETEKEMANMKEEFEKTKEELAKTEAKRKELEEKMVTLMQEKNDLQLQVQAEADSLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKIRMDLERAKRKLEGDLKLAQESTMDIENDKQQLDEKLKKKEFEMSGLQSKIEDEQALGMQLQKKIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNMETVSKAKGNLEKMCRALEDQLSEIKTKEEEQQRLINDLTAQRARLQTESGEYSRQLDEKDTLVSQLSRGKQAFTQQIEELKRQLEEEIKAKSALAHALQSSRHDCDLLREQYEEEQEAKAELQRAMSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEHVEAVNAKCASLEKTKQRLQNEVEDLMIDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKESRSLSTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKSELQAALEEAEASLEHEEGKILRIQLELNQVKSEVDRKIAEKDEEIDQMKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQAILKDTQLHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQIQGEMEDIIQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNVEAVKGLRKHERKVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNVNLSKFRRIQHELEEAEERADIAESQVNKLRVKSREVHTKIISEE
UniProt ID: P12992
Variant: V -> L at position 29-29
Protein function: JH esterase plays a crucial role in the decrease of JH activity in lepidopteran insects, by hydrolyzing the methyl ester of JH. It is also involved in the transport of JH.
Reference sequence:
MTSHVLALAFLLHACTALAWQETNSRSVVAHLDSGIIRGVPRSADGIKFASFLGVPYAKQPVGELRFKELEPLEPWDNILNATNEGPICFQTDVLYGRLMAASEMSEACIYANIHVPWQSLPRVRGTTPLRPILVFIHGGGFAFGSGHEDLHGPEYLVTKNVIVITFNYRLNVFGFLSMNTTKIPGNAGLRDQVTLLRWVQRNAKNFGGDPSDITIAGQSAGASAAHLLTLSKATEGLFKRAILMSGTGMSYFFTTSPLFAAYISKQLLQILGINETDPEEIHRQLIDLPAEKLNEANAVLIEQIGLTTFLPIVESPLPGVTTIIDDDPEILIAEGRGKNVPLLIGFTSSECETFRNRLLNFDLVKKIQDNPTIIIPPKLLFMTPPELLMELAKTIERKYYNGTISIDNFVKSCSDGFYEYPALKLAQKRAETGGAPLYLYRFAYEGQNSIIKKVMGLNHEGVGHIEDLTYVFKVNSMSEALHASPSENDVKMKNLMTGYFLNFIKCSQPTCEDNNSLEVWPANNGMQYEDIVSPTIIRSKEFASRQQDIIEFFDSFTSRSPLE
UniProt ID: P12992
Variant: F -> P at position 52-52
Protein function: JH esterase plays a crucial role in the decrease of JH activity in lepidopteran insects, by hydrolyzing the methyl ester of JH. It is also involved in the transport of JH.
Reference sequence:
MTSHVLALAFLLHACTALAWQETNSRSVVAHLDSGIIRGVPRSADGIKFASFLGVPYAKQPVGELRFKELEPLEPWDNILNATNEGPICFQTDVLYGRLMAASEMSEACIYANIHVPWQSLPRVRGTTPLRPILVFIHGGGFAFGSGHEDLHGPEYLVTKNVIVITFNYRLNVFGFLSMNTTKIPGNAGLRDQVTLLRWVQRNAKNFGGDPSDITIAGQSAGASAAHLLTLSKATEGLFKRAILMSGTGMSYFFTTSPLFAAYISKQLLQILGINETDPEEIHRQLIDLPAEKLNEANAVLIEQIGLTTFLPIVESPLPGVTTIIDDDPEILIAEGRGKNVPLLIGFTSSECETFRNRLLNFDLVKKIQDNPTIIIPPKLLFMTPPELLMELAKTIERKYYNGTISIDNFVKSCSDGFYEYPALKLAQKRAETGGAPLYLYRFAYEGQNSIIKKVMGLNHEGVGHIEDLTYVFKVNSMSEALHASPSENDVKMKNLMTGYFLNFIKCSQPTCEDNNSLEVWPANNGMQYEDIVSPTIIRSKEFASRQQDIIEFFDSFTSRSPLE
UniProt ID: P13010
Variant: L -> F at position 463-463
Variant annotation: in dbSNP:rs1805380
Protein function: Single-stranded DNA-dependent ATP-dependent helicase that plays a key role in DNA non-homologous end joining (NHEJ) by recruiting DNA-PK to DNA . Required for double-strand break repair and V(D)J recombination . Also has a role in chromosome translocation . The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner . It works in the 3'-5' direction . During NHEJ, the XRCC5-XRRC6 dimer performs the recognition step: it recognizes and binds to the broken ends of the DNA and protects them from further resection . Binding to DNA may be mediated by XRCC6 . The XRCC5-XRRC6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold . The XRCC5-XRRC6 dimer is probably involved in stabilizing broken DNA ends and bringing them together . The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step . The XRCC5-XRRC6 dimer probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks . XRCC5 probably acts as the catalytic subunit of 5'-dRP activity, and allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined . The XRCC5-XRRC6 dimer together with APEX1 acts as a negative regulator of transcription . In association with NAA15, the XRCC5-XRRC6 dimer binds to the osteocalcin promoter and activates osteocalcin expression . As part of the DNA-PK complex, involved in the early steps of ribosome assembly by promoting the processing of precursor rRNA into mature 18S rRNA in the small-subunit processome . Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome . Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway .
Reference sequence:
MVRSGNKAAVVLCMDVGFTMSNSIPGIESPFEQAKKVITMFVQRQVFAENKDEIALVLFGTDGTDNPLSGGDQYQNITVHRHLMLPDFDLLEDIESKIQPGSQQADFLDALIVSMDVIQHETIGKKFEKRHIEIFTDLSSRFSKSQLDIIIHSLKKCDISLQFFLPFSLGKEDGSGDRGDGPFRLGGHGPSFPLKGITEQQKEGLEIVKMVMISLEGEDGLDEIYSFSESLRKLCVFKKIERHSIHWPCRLTIGSNLSIRIAAYKSILQERVKKTWTVVDAKTLKKEDIQKETVYCLNDDDETEVLKEDIIQGFRYGSDIVPFSKVDEEQMKYKSEGKCFSVLGFCKSSQVQRRFFMGNQVLKVFAARDDEAAAVALSSLIHALDDLDMVAIVRYAYDKRANPQVGVAFPHIKHNYECLVYVQLPFMEDLRQYMFSSLKNSKKYAPTEAQLNAVDALIDSMSLAKKDEKTDTLEDLFPTTKIPNPRFQRLFQCLLHRALHPREPLPPIQQHIWNMLNPPAEVTTKSQIPLSKIKTLFPLIEAKKKDQVTAQEIFQDNHEDGPTAKKLKTEQGGAHFSVSSLAEGSVTSVGSVNPAENFRVLVKQKKASFEEASNQLINHIEQFLDTNETPYFMKSIDCIRAFREEAIKFSEEQRFNNFLKALQEKVEIKQLNHFWEIVVQDGITLITKEEASGSSVTAEEAKKFLAPKDKPSGDTAAVFEEGGDVDDLLDMI
UniProt ID: P13010
Variant: I -> V at position 508-508
Variant annotation: in dbSNP:rs2287558
Protein function: Single-stranded DNA-dependent ATP-dependent helicase that plays a key role in DNA non-homologous end joining (NHEJ) by recruiting DNA-PK to DNA . Required for double-strand break repair and V(D)J recombination . Also has a role in chromosome translocation . The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner . It works in the 3'-5' direction . During NHEJ, the XRCC5-XRRC6 dimer performs the recognition step: it recognizes and binds to the broken ends of the DNA and protects them from further resection . Binding to DNA may be mediated by XRCC6 . The XRCC5-XRRC6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold . The XRCC5-XRRC6 dimer is probably involved in stabilizing broken DNA ends and bringing them together . The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step . The XRCC5-XRRC6 dimer probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks . XRCC5 probably acts as the catalytic subunit of 5'-dRP activity, and allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined . The XRCC5-XRRC6 dimer together with APEX1 acts as a negative regulator of transcription . In association with NAA15, the XRCC5-XRRC6 dimer binds to the osteocalcin promoter and activates osteocalcin expression . As part of the DNA-PK complex, involved in the early steps of ribosome assembly by promoting the processing of precursor rRNA into mature 18S rRNA in the small-subunit processome . Binding to U3 small nucleolar RNA, recruits PRKDC and XRCC5/Ku86 to the small-subunit processome . Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway .
Reference sequence:
MVRSGNKAAVVLCMDVGFTMSNSIPGIESPFEQAKKVITMFVQRQVFAENKDEIALVLFGTDGTDNPLSGGDQYQNITVHRHLMLPDFDLLEDIESKIQPGSQQADFLDALIVSMDVIQHETIGKKFEKRHIEIFTDLSSRFSKSQLDIIIHSLKKCDISLQFFLPFSLGKEDGSGDRGDGPFRLGGHGPSFPLKGITEQQKEGLEIVKMVMISLEGEDGLDEIYSFSESLRKLCVFKKIERHSIHWPCRLTIGSNLSIRIAAYKSILQERVKKTWTVVDAKTLKKEDIQKETVYCLNDDDETEVLKEDIIQGFRYGSDIVPFSKVDEEQMKYKSEGKCFSVLGFCKSSQVQRRFFMGNQVLKVFAARDDEAAAVALSSLIHALDDLDMVAIVRYAYDKRANPQVGVAFPHIKHNYECLVYVQLPFMEDLRQYMFSSLKNSKKYAPTEAQLNAVDALIDSMSLAKKDEKTDTLEDLFPTTKIPNPRFQRLFQCLLHRALHPREPLPPIQQHIWNMLNPPAEVTTKSQIPLSKIKTLFPLIEAKKKDQVTAQEIFQDNHEDGPTAKKLKTEQGGAHFSVSSLAEGSVTSVGSVNPAENFRVLVKQKKASFEEASNQLINHIEQFLDTNETPYFMKSIDCIRAFREEAIKFSEEQRFNNFLKALQEKVEIKQLNHFWEIVVQDGITLITKEEASGSSVTAEEAKKFLAPKDKPSGDTAAVFEEGGDVDDLLDMI
UniProt ID: P13051
Variant: Q -> R at position 4-4
Variant annotation: in dbSNP:rs7488798
Protein function: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.
Reference sequence:
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVSWLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL
UniProt ID: P13051
Variant: R -> C at position 88-88
Variant annotation: in HIGM5; loss of interaction with RPA2 resulting in impaired colocalization of UNG2 and RPA2 at nuclear foci; no effect on interaction with PCNA; no effect on protein expression and stability; confers resistance to activity reduction by RPA trimer; dbSNP:rs151095402
Effect: loss
Target: interaction with rpa2 resulting in impaired colocalization of ung2 and rpa2 at nuclear foci
Protein function: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.
Reference sequence:
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVSWLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL
UniProt ID: P13051
Variant: F -> S at position 251-251
Variant annotation: in HIGM5; fully active and stable when expressed in E.coli; mistargeted to mitochondria rather than the nucleus; dbSNP:rs104894380
Protein function: Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine.
Reference sequence:
MIGQKTLYSFFSPSPARKRHAPSPEPAVQGTGVAGVPEESGDAAAIPAKKAPAGQEEPGTPPSSPLSAEQLDRIQRNKAAALLRLAARNVPVGFGESWKKHLSGEFGKPYFIKLMGFVAEERKHYTVYPPPHQVFTWTQMCDIKDVKVVILGQDPYHGPNQAHGLCFSVQRPVPPPPSLENIYKELSTDIEDFVHPGHGDLSGWAKQGVLLLNAVLTVRAHQANSHKERGWEQFTDAVVSWLNQNSNGLVFLLWGSYAQKKGSAIDRKRHHVLQTAHPSPLSVYRGFFGCRHFSKTNELLQKSGKKPIDWKEL
UniProt ID: P13095
Variant: T -> A at position 11-11
Variant annotation: in strain: Nv2001_m0595 and NVIII-m11
Protein function: Part of the Notch signaling pathway.
Reference sequence:
MCQNKINTNNTMTIKSNKKLSYSVKKLLQKIFKQQQRVEEEQNLKNALKANSLESLESMENSRNADLESASICASLESCENEANERLSQSCEIEDYDFEQLPTVPVHFVRTAHGTFFWTAVSDLPADNDLVEPLYCSTSNAIAIPQDRWVQA
UniProt ID: P13095
Variant: R -> P at position 63-63
Variant annotation: in strain: Nv2001_m0592
Protein function: Part of the Notch signaling pathway.
Reference sequence:
MCQNKINTNNTMTIKSNKKLSYSVKKLLQKIFKQQQRVEEEQNLKNALKANSLESLESMENSRNADLESASICASLESCENEANERLSQSCEIEDYDFEQLPTVPVHFVRTAHGTFFWTAVSDLPADNDLVEPLYCSTSNAIAIPQDRWVQA
UniProt ID: P13095
Variant: E -> K at position 82-82
Variant annotation: in strain: NVIII-41
Protein function: Part of the Notch signaling pathway.
Reference sequence:
MCQNKINTNNTMTIKSNKKLSYSVKKLLQKIFKQQQRVEEEQNLKNALKANSLESLESMENSRNADLESASICASLESCENEANERLSQSCEIEDYDFEQLPTVPVHFVRTAHGTFFWTAVSDLPADNDLVEPLYCSTSNAIAIPQDRWVQA
UniProt ID: P13096
Variant: A -> V at position 2-2
Variant annotation: in strain: Nv2001_f0696, NVIII-46 and NVIII-24
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo. Transcriptional repressor. Binds DNA on N-box motifs: 5'-CACNAG-3'.
Reference sequence:
MAPQSNNSTTFVSKTQHYLKVKKPLLERQRRARMNKCLDTLKTLVAEFQGDDAILRMDKAEMLEAALVFMRKQVVKQQAPVSPLPMDSFKNGYMNAVSEISRVMACTPAMSVDVGKTVMTHLGVEFQRMLQADQVQTSVTTSTPRPLSPASSGYHSDNEDSQSAASPKPVEETMWRPW
UniProt ID: P13096
Variant: P -> Q at position 169-169
Variant annotation: in strain: NVIII-46 and NVIII-24
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo. Transcriptional repressor. Binds DNA on N-box motifs: 5'-CACNAG-3'.
Reference sequence:
MAPQSNNSTTFVSKTQHYLKVKKPLLERQRRARMNKCLDTLKTLVAEFQGDDAILRMDKAEMLEAALVFMRKQVVKQQAPVSPLPMDSFKNGYMNAVSEISRVMACTPAMSVDVGKTVMTHLGVEFQRMLQADQVQTSVTTSTPRPLSPASSGYHSDNEDSQSAASPKPVEETMWRPW
UniProt ID: P13098
Variant: T -> I at position 114-114
Variant annotation: in strain: NVIII-2, NVIII-5 and NVIII-m15
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo . Transcriptional repressor . Binds DNA on N-box motifs: 5'-CACNAG-3' . Part of the Notch signaling pathway .
Reference sequence:
MEYTTKTQIYQKVKKPMLERQRRARMNKCLDNLKTLVAELRGDDGILRMDKAEMLESAVIFMRQQKTPKKVAQEEQSLPLDSFKNGYMNAVNEVSRVMASTPGMSVDLGKSVMTHLGRVYKNLQQFHEAQSAADFIQNSMDCSSMDKAPLSPASSGYHSDCDSPAPSPQPMQQPLWRPW
UniProt ID: P13098
Variant: A -> T at position 133-133
Variant annotation: in strain: NVIII-m11 and NVIII-m19
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo . Transcriptional repressor . Binds DNA on N-box motifs: 5'-CACNAG-3' . Part of the Notch signaling pathway .
Reference sequence:
MEYTTKTQIYQKVKKPMLERQRRARMNKCLDNLKTLVAELRGDDGILRMDKAEMLESAVIFMRQQKTPKKVAQEEQSLPLDSFKNGYMNAVNEVSRVMASTPGMSVDLGKSVMTHLGRVYKNLQQFHEAQSAADFIQNSMDCSSMDKAPLSPASSGYHSDCDSPAPSPQPMQQPLWRPW
UniProt ID: P13098
Variant: D -> N at position 134-134
Variant annotation: in strain: NVIII-m19
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo . Transcriptional repressor . Binds DNA on N-box motifs: 5'-CACNAG-3' . Part of the Notch signaling pathway .
Reference sequence:
MEYTTKTQIYQKVKKPMLERQRRARMNKCLDNLKTLVAELRGDDGILRMDKAEMLESAVIFMRQQKTPKKVAQEEQSLPLDSFKNGYMNAVNEVSRVMASTPGMSVDLGKSVMTHLGRVYKNLQQFHEAQSAADFIQNSMDCSSMDKAPLSPASSGYHSDCDSPAPSPQPMQQPLWRPW
UniProt ID: P13098
Variant: D -> V at position 141-141
Variant annotation: in strain: NVIII-m19
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo . Transcriptional repressor . Binds DNA on N-box motifs: 5'-CACNAG-3' . Part of the Notch signaling pathway .
Reference sequence:
MEYTTKTQIYQKVKKPMLERQRRARMNKCLDNLKTLVAELRGDDGILRMDKAEMLESAVIFMRQQKTPKKVAQEEQSLPLDSFKNGYMNAVNEVSRVMASTPGMSVDLGKSVMTHLGRVYKNLQQFHEAQSAADFIQNSMDCSSMDKAPLSPASSGYHSDCDSPAPSPQPMQQPLWRPW
UniProt ID: P13098
Variant: P -> T at position 174-174
Variant annotation: in strain: NVIII-m12
Protein function: Participates in the control of cell fate choice by uncommitted neuroectodermal cells in the embryo . Transcriptional repressor . Binds DNA on N-box motifs: 5'-CACNAG-3' . Part of the Notch signaling pathway .
Reference sequence:
MEYTTKTQIYQKVKKPMLERQRRARMNKCLDNLKTLVAELRGDDGILRMDKAEMLESAVIFMRQQKTPKKVAQEEQSLPLDSFKNGYMNAVNEVSRVMASTPGMSVDLGKSVMTHLGRVYKNLQQFHEAQSAADFIQNSMDCSSMDKAPLSPASSGYHSDCDSPAPSPQPMQQPLWRPW
UniProt ID: P13106
Variant: E -> A at position 1-1
Protein function: Ferredoxins are iron-sulfur proteins that transfer electrons in a wide variety of metabolic reactions.
Reference sequence:
ETYSVTLVNEEKNINAVIKCPDDQFILDAAEEQGIELPYSCRAGACSTCAGKVLSGTIDQSEQSFLDDDQMGAGFLLTCVAYPTSDCKVQTHAEDDLY
UniProt ID: P13127
Variant: F -> I at position 163-163
Protein function: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. May play a role in the formation of epithelial cell junctions.
Reference sequence:
MADFEDRVSDEEKVRIAAKFITHAPPGEFNEVFNDVRLLLNNDNLLREGAAHAFAQYNMDQFTPVKIEGYDDQVLITEHGDLGNGRFLDPRNKISFKFDHLRKEASDPQPEDTESALKQWRDACDSALRAYVKDHYPNGFCTVYGKSIDGQQTIIACIESHQFQPKNFWNGRWRSEWKFTITPPTAQVAAVLKIQVHYYEDGNVQLVSHKDIQDSVQVSSDVQTAKEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILSYKIGKEMQNA
UniProt ID: P13203
Variant: T -> S at position 2-2
Protein function: Catalyzes the NAD(P)(+)-dependent oxidation of D-glucose to D-gluconate via gluconolactone. Is also significantly active with galactose as substrate, but not with mannose or glucose 6-phosphate. Can utilize both NAD(+) and NADP(+) as electron acceptor, with a marked preference for NADP(+). Physiologically, may be involved in the degradation of both glucose and galactose through a non-phosphorylative variant of the Entner-Doudoroff pathway.
Reference sequence:
MTEQKAIVTDAPKGGVKYTTIDMPEPEHYDAKLSPVYIGICGTDRGEVAGALSFTYNPEGENFLVLGHEALLRVDDARDNGYIKKGDLVVPLVRRPGKCINCRIGRQDNCSIGDPDKHEAGITGLHGFMRDVIYDDIEYLVKVEDPELGRIAVLTEPLKNVMKAFEVFDVVSKRSIFFGDDSTLIGKRMVIIGSGSEAFLYSFAGVDRGFDVTMVNRHDETENKLKIMDEFGVKFANYLKDMPEKIDLLVDTSGDPTTTFKFLRKVNNNGVVILFGTNGKAPGYPVDGEDIDYIVERNITIAGSVDAAKIHYVQALQSLSNWNRRHPDAMKSIITYEAKPSETNIFFQKPHGEIKTVIKWQ
UniProt ID: P13224
Variant: Y -> C at position 113-113
Variant annotation: in BSS; dbSNP:rs121909750
Protein function: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
Reference sequence:
MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES
UniProt ID: P13224
Variant: A -> P at position 133-133
Variant annotation: in BSS; dbSNP:rs121909751
Protein function: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.
Reference sequence:
MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES
UniProt ID: P13229
Variant: V -> A at position 105-105
Protein function: Component of the cuticle of the larva of tobacco hornworm.
Reference sequence:
MKSFIVALCVVGCVLANDPEAVVVRNDYVQNPEGSYNYAFESNNGISGQAEGKFKVFDKDSAAVVVAGSSQYKGSDGKVYSLTYVADENGYQPQADFLPTPPPTVAIPEYIARAVAYNLAHSAKV