sujigwak/NVAR huggingface dataset:
UniProt ID: P52664
Variant: Q -> E at position 126-126
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52664
Variant: H -> N at position 224-224
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52664
Variant: I -> V at position 235-235
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52664
Variant: K -> E at position 257-257
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52664
Variant: V -> A at position 283-283
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52664
Variant: T -> A at position 286-286
Variant annotation: in strain: 5E78-1
Protein function: Hydrolyzes broad-spectrum beta-lactam antibiotics. Active against cephalosporins such as cefuroxime and cefotaxime.
Reference sequence:
MTMFKTTFRQTATIAVSLISLLVSPMLWANTNNTIEEQLSTLEKYSQGRLGVALINTEDNSQITYRGEERFAMASTSKVMAVAAVLKESEKQAGLLDKNITIKKSDLVAYSPITEKHLVTGMSLAQLSAATLQYSDNTAMNKILDYLGGPAKVTQFARSINDVTYRLDRKEPELNTAIHGDPRDTTSPIAMAKSLQALTLGDALGQSQRQQLVTWLKGNTTGDHSIKAGLPKHWIVGDKTGSGDYGTTNDIAVIWPKNHAPLILVVYFTQQEQDAKYRKDIIVKATEIVTKEISNSPQTK
UniProt ID: P52698
Variant: L -> A at position 92-92
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: I -> V at position 100-100
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: H -> G at position 185-185
Variant annotation: in strain: ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: H -> R at position 185-185
Variant annotation: in strain: AW1
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: T -> S at position 206-206
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: M -> L at position 247-247
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: T -> A at position 262-262
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: N -> S at position 264-264
Variant annotation: in strain: ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: I -> N at position 314-314
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: S -> A at position 329-329
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52698
Variant: V -> A at position 347-347
Variant annotation: in strain: AW1 and ACH0158
Protein function: Regulates the transcription of one or more of the genes involved in virulence.
Reference sequence:
MVNVDTKLLVIFVELLSKRNATYVAEKMHMTAPAVSHSLGRLREIFDDPLFIRVPHGLTPTPKALELGPKVREMLDLWAAINEGDIATFDPLEAAGTFNISFAGTLGDALFDRFLLRVKRLAPGLQVRLTESSSWEADVAAMRSNELDLAFSPFPTRHPEIVEEVVTSFNMWVCARKDHPVLKDHCSLDQYLECEHIFIAQGNPGTRAAPSLIPLDYALQQRGLKRHSTMTVHAWRTQAEVAAQTDMIFTVNSLMKDLVCETYNLNAFPLPSELETVLGLNMLWHRSRNTHPMLVWARNLFKQVVAEYTGKASIAPMHPPMLTDDSGKSGKTGKGDAEKEDESRLSV
UniProt ID: P52736
Variant: S -> T at position 193-193
Variant annotation: in dbSNP:rs1033545
Protein function: May be involved in transcriptional regulation as a repressor.
Reference sequence:
MAFRDVAVDFTQDEWRLLSPAQRTLYREVMLENYSNLVSLGISFSKPELITQLEQGKETWREEKKCSPATCPADPEPELYLDPFCPPGFSSQKFPMQHVLCNHPPWIFTCLCAEGNIQPGDPGPGDQEKQQQASEGRPWSDQAEGPEGEGAMPLFGRTKKRTLGAFSRPPQRQPVSSRNGLRGVELEASPAQSGNPEETDKLLKRIEVLGFGTVNCGECGLSFSKMTNLLSHQRIHSGEKPYVCGVCEKGFSLKKSLARHQKAHSGEKPIVCRECGRGFNRKSTLIIHERTHSGEKPYMCSECGRGFSQKSNLIIHQRTHSGEKPYVCRECGKGFSQKSAVVRHQRTHLEEKTIVCSDCGLGFSDRSNLISHQRTHSGEKPYACKECGRCFRQRTTLVNHQRTHSKEKPYVCGVCGHSFSQNSTLISHRRTHTGEKPYVCGVCGRGFSLKSHLNRHQNIHSGEKPIVCKDCGRGFSQQSNLIRHQRTHSGEKPMVCGECGRGFSQKSNLVAHQRTHSGERPYVCRECGRGFSHQAGLIRHKRKHSREKPYMCRQCGLGFGNKSALITHKRAHSEEKPCVCRECGQGFLQKSHLTLHQMTHTGEKPYVCKTCGRGFSLKSHLSRHRKTTSVHHRLPVQPDPEPCAGQPSDSLYSL
UniProt ID: P52736
Variant: G -> E at position 194-194
Variant annotation: in dbSNP:rs2228273
Protein function: May be involved in transcriptional regulation as a repressor.
Reference sequence:
MAFRDVAVDFTQDEWRLLSPAQRTLYREVMLENYSNLVSLGISFSKPELITQLEQGKETWREEKKCSPATCPADPEPELYLDPFCPPGFSSQKFPMQHVLCNHPPWIFTCLCAEGNIQPGDPGPGDQEKQQQASEGRPWSDQAEGPEGEGAMPLFGRTKKRTLGAFSRPPQRQPVSSRNGLRGVELEASPAQSGNPEETDKLLKRIEVLGFGTVNCGECGLSFSKMTNLLSHQRIHSGEKPYVCGVCEKGFSLKKSLARHQKAHSGEKPIVCRECGRGFNRKSTLIIHERTHSGEKPYMCSECGRGFSQKSNLIIHQRTHSGEKPYVCRECGKGFSQKSAVVRHQRTHLEEKTIVCSDCGLGFSDRSNLISHQRTHSGEKPYACKECGRCFRQRTTLVNHQRTHSKEKPYVCGVCGHSFSQNSTLISHRRTHTGEKPYVCGVCGRGFSLKSHLNRHQNIHSGEKPIVCKDCGRGFSQQSNLIRHQRTHSGEKPMVCGECGRGFSQKSNLVAHQRTHSGERPYVCRECGRGFSHQAGLIRHKRKHSREKPYMCRQCGLGFGNKSALITHKRAHSEEKPCVCRECGQGFLQKSHLTLHQMTHTGEKPYVCKTCGRGFSLKSHLSRHRKTTSVHHRLPVQPDPEPCAGQPSDSLYSL
UniProt ID: P52737
Variant: Y -> C at position 107-107
Variant annotation: in dbSNP:rs10425995
Protein function: May be involved in transcriptional regulation as a weak repressor when alone, or a potent one when fused with a heterologous protein containing a KRAB B-domain.
Reference sequence:
MDSVAFEDVDVNFTQEEWALLDPSQKNLYRDVMWETMRNLASIGKKWKDQNIKDHYKHRGRNLRSHMLERLYQTKDGSQRGGIFSQFANQNLSKKIPGVKLCESIVYGEVSMGQSSLNRHIKDHSGHEPKEYQEYGEKPDTRNQCWKPFSSHHSFRTHEIIHTGEKLYDCKECGKTFFSLKRIRRHIITHSGYTPYKCKVCGKAFDYPSRFRTHERSHTGEKPYECQECGKAFTCITSVRRHMIKHTGDGPYKCKVCGKPFHSLSSFQVHERIHTGEKPFKCKQCGKAFSCSPTLRIHERTHTGEKPYECKQCGKAFSYLPSLRLHERIHTGEKPFVCKQCGKAFRSASTFQIHERTHTGEKPYECKECGEAFSCIPSMRRHMIKHTGEGPYKCKVCGKPFHSLSPFRIHERTHTGEKPYVCKHCGKAFVSSTSIRIHERTHTGEKPYECKQCGKAFSYLNSFRTHEMIHTGEKPFECKRCGKAFRSSSSFRLHERTHTGQKPYHCKECGKAYSCRASFQRHMLTHAEDGPPYKCMWESL
UniProt ID: P52738
Variant: A -> V at position 386-386
Variant annotation: in dbSNP:rs2229373
Protein function: May be involved in transcriptional regulation as a repressor.
Reference sequence:
MSQGSVTFRDVAIDFSQEEWKWLQPAQRDLYRCVMLENYGHLVSLGLSISKPDVVSLLEQGKEPWLGKREVKRDLFSVSESSGEIKDFSPKNVIYDDSSQYLIMERILSQGPVYSSFKGGWKCKDHTEMLQENQGCIRKVTVSHQEALAQHMNISTVERPYGCHECGKTFGRRFSLVLHQRTHTGEKPYACKECGKTFSQISNLVKHQMIHTGKKPHECKDCNKTFSYLSFLIEHQRTHTGEKPYECTECGKAFSRASNLTRHQRIHIGKKQYICRKCGKAFSSGSELIRHQITHTGEKPYECIECGKAFRRFSHLTRHQSIHTTKTPYECNECRKAFRCHSFLIKHQRIHAGEKLYECDECGKVFTWHASLIQHTKSHTGEKPYACAECDKAFSRSFSLILHQRTHTGEKPYVCKVCNKSFSWSSNLAKHQRTHTLDNPYEYENSFNYHSFLTEHQ
UniProt ID: P52740
Variant: G -> D at position 203-203
Variant annotation: in dbSNP:rs1122955
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MALPSPQVLMGLPALLMGPAQHTSWPCGSAVPTLKSMVTFEDVAVYFSQEEWELLDAAQRHLYHSVMLENLELVTSLGSWHGVEGEGAHPKQNVSVEVLQVRIPNADPSTKKANSCDMCGPFLKDILHLAEHQGTQSEEKPYTCGACGRDFWLNANLHQHQKEHSGGKPFRWYKDRDALMKSSKVHLSENPFTCREGGKVILGSCDLLQLQAVDSGQKPYSNLGQLPEVCTTQKLFECSNCGKAFLKSSTLPNHLRTHSEEIPFTCPTGGNFLEEKSILGNKKFHTGEIPHVCKECGKAFSHSSKLRKHQKFHTEVKYYECIACGKTFNHKLTFVHHQRIHSGERPYECDECGKAFSNRSHLIRHEKVHTGERPFECLKCGRAFSQSSNFLRHQKVHTQVRPYECSQCGKSFSRSSALIQHWRVHTGERPYECSECGRAFNNNSNLAQHQKVHTGERPFECSECGRDFSQSSHLLRHQKVHTGERPFECCDCGKAFSNSSTLIQHQKVHTGQRPYECSECRKSFSRSSSLIQHWRIHTGEKPYECSECGKAFAHSSTLIEHWRVHTKERPYECNECGKFFSQNSILIKHQKVHTGEKPYKCSECGKFFSRKSSLICHWRVHTGERPYECSECGRAFSSNSHLVRHQRVHTQERPYECIQCGKAFSERSTLVRHQKVHTRERTYECSQCGKLFSHLCNLAQHKKIHT
UniProt ID: P52740
Variant: P -> L at position 252-252
Variant annotation: in dbSNP:rs1465789
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MALPSPQVLMGLPALLMGPAQHTSWPCGSAVPTLKSMVTFEDVAVYFSQEEWELLDAAQRHLYHSVMLENLELVTSLGSWHGVEGEGAHPKQNVSVEVLQVRIPNADPSTKKANSCDMCGPFLKDILHLAEHQGTQSEEKPYTCGACGRDFWLNANLHQHQKEHSGGKPFRWYKDRDALMKSSKVHLSENPFTCREGGKVILGSCDLLQLQAVDSGQKPYSNLGQLPEVCTTQKLFECSNCGKAFLKSSTLPNHLRTHSEEIPFTCPTGGNFLEEKSILGNKKFHTGEIPHVCKECGKAFSHSSKLRKHQKFHTEVKYYECIACGKTFNHKLTFVHHQRIHSGERPYECDECGKAFSNRSHLIRHEKVHTGERPFECLKCGRAFSQSSNFLRHQKVHTQVRPYECSQCGKSFSRSSALIQHWRVHTGERPYECSECGRAFNNNSNLAQHQKVHTGERPFECSECGRDFSQSSHLLRHQKVHTGERPFECCDCGKAFSNSSTLIQHQKVHTGQRPYECSECRKSFSRSSSLIQHWRIHTGEKPYECSECGKAFAHSSTLIEHWRVHTKERPYECNECGKFFSQNSILIKHQKVHTGEKPYKCSECGKFFSRKSSLICHWRVHTGERPYECSECGRAFSSNSHLVRHQRVHTQERPYECIQCGKAFSERSTLVRHQKVHTRERTYECSQCGKLFSHLCNLAQHKKIHT
UniProt ID: P52741
Variant: I -> T at position 30-30
Variant annotation: in dbSNP:rs10414451
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MTLVTAGGAWTGPGCWHEVKDEESSSEQSISIAVSHVNTSKAGLPAQTALPCDICGPILKDILHLDEHQGTHHGLKLHTCGACGRQFWFSANLHQYQKCYSIEQPLRRDKSEASIVKNCTVSKEPHPSEKPFTCKEEQKNFQATLGGCQQKAIHSKRKTHRSTESGDAFHGEQMHYKCSECGKAFSRKDTLVQHQRIHSGEKPYECSECGKAFSRKATLVQHQRIHTGERPYECSECGKTFSRKDNLTQHKRIHTGEMPYKCNECGKYFSHHSNLIVHQRVHNGARPYKCSDCGKVFRHKSTLVQHESIHTGENPYDCSDCGKSFGHKYTLIKHQRIHTESKPFECIECGKFFSRSSDYIAHQRVHTGERPFVCSKCGKDFIRTSHLVRHQRVHTGERPYECSECGKAYSLSSHLNRHQKVHTAGRL
UniProt ID: P52741
Variant: A -> T at position 46-46
Variant annotation: in dbSNP:rs10413455
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MTLVTAGGAWTGPGCWHEVKDEESSSEQSISIAVSHVNTSKAGLPAQTALPCDICGPILKDILHLDEHQGTHHGLKLHTCGACGRQFWFSANLHQYQKCYSIEQPLRRDKSEASIVKNCTVSKEPHPSEKPFTCKEEQKNFQATLGGCQQKAIHSKRKTHRSTESGDAFHGEQMHYKCSECGKAFSRKDTLVQHQRIHSGEKPYECSECGKAFSRKATLVQHQRIHTGERPYECSECGKTFSRKDNLTQHKRIHTGEMPYKCNECGKYFSHHSNLIVHQRVHNGARPYKCSDCGKVFRHKSTLVQHESIHTGENPYDCSDCGKSFGHKYTLIKHQRIHTESKPFECIECGKFFSRSSDYIAHQRVHTGERPFVCSKCGKDFIRTSHLVRHQRVHTGERPYECSECGKAYSLSSHLNRHQKVHTAGRL
UniProt ID: P52741
Variant: S -> R at position 207-207
Variant annotation: in dbSNP:rs34034473
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MTLVTAGGAWTGPGCWHEVKDEESSSEQSISIAVSHVNTSKAGLPAQTALPCDICGPILKDILHLDEHQGTHHGLKLHTCGACGRQFWFSANLHQYQKCYSIEQPLRRDKSEASIVKNCTVSKEPHPSEKPFTCKEEQKNFQATLGGCQQKAIHSKRKTHRSTESGDAFHGEQMHYKCSECGKAFSRKDTLVQHQRIHSGEKPYECSECGKAFSRKATLVQHQRIHTGERPYECSECGKTFSRKDNLTQHKRIHTGEMPYKCNECGKYFSHHSNLIVHQRVHNGARPYKCSDCGKVFRHKSTLVQHESIHTGENPYDCSDCGKSFGHKYTLIKHQRIHTESKPFECIECGKFFSRSSDYIAHQRVHTGERPFVCSKCGKDFIRTSHLVRHQRVHTGERPYECSECGKAYSLSSHLNRHQKVHTAGRL
UniProt ID: P52742
Variant: G -> D at position 22-22
Variant annotation: in dbSNP:rs1469087
Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.
Reference sequence:
MTPGVRVSTDPEQVTFEDVVVGFSQEEWGQLKPAQRTLYRDVMLDTFRLLVSVGHWLPKPNVISLLEQEAELWAVESRLPQGVYPDLETRPKVKLSVLKQGISEEISNSVILVERFLWDGLWYCRGEDTEGHWEWSCESLESLAVPVAFTPVKTPVLEQWQRNGFGENISLNPDLPHQPMTPERQSPHTWGTRGKREKPDLNVLQKTCVKEKPYKCQECGKAFSHSSALIEHHRTHTGERPYECHECLKGFRNSSALTKHQRIHTGEKPYKCTQCGRTFNQIAPLIQHQRTHTGEKPYECSECGKSFSFRSSFSQHERTHTGEKPYECSECGKAFRQSIHLTQHLRIHTGEKPYQCGECGKAFSHSSSLTKHQRIHTGEKPYECHECGKAFTQITPLIQHQRTHTGEKPYECGECGKAFSQSTLLTEHRRIHTGEKPYGCNECGKTFSHSSSLSQHERTHTGEKPYECSQCGKAFRQSTHLTQHQRIHTGEKPYECNDCGKAFSHSSSLTKHQRIHTGEKPYECNQCGRAFSQLAPLIQHQRIHTGEKPYECNQCGRAFSQSSLLIEHQRIHTKEKPYGCNECGKSFSHSSSLSQHERTHTGEKPYECHDCGKSFRQSTHLTQHRRIHTGEKPYACRDCGKAFTHSSSLTKHQRTHTG
UniProt ID: P52742
Variant: S -> L at position 507-507
Variant annotation: in dbSNP:rs2228277
Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.
Reference sequence:
MTPGVRVSTDPEQVTFEDVVVGFSQEEWGQLKPAQRTLYRDVMLDTFRLLVSVGHWLPKPNVISLLEQEAELWAVESRLPQGVYPDLETRPKVKLSVLKQGISEEISNSVILVERFLWDGLWYCRGEDTEGHWEWSCESLESLAVPVAFTPVKTPVLEQWQRNGFGENISLNPDLPHQPMTPERQSPHTWGTRGKREKPDLNVLQKTCVKEKPYKCQECGKAFSHSSALIEHHRTHTGERPYECHECLKGFRNSSALTKHQRIHTGEKPYKCTQCGRTFNQIAPLIQHQRTHTGEKPYECSECGKSFSFRSSFSQHERTHTGEKPYECSECGKAFRQSIHLTQHLRIHTGEKPYQCGECGKAFSHSSSLTKHQRIHTGEKPYECHECGKAFTQITPLIQHQRTHTGEKPYECGECGKAFSQSTLLTEHRRIHTGEKPYGCNECGKTFSHSSSLSQHERTHTGEKPYECSQCGKAFRQSTHLTQHQRIHTGEKPYECNDCGKAFSHSSSLTKHQRIHTGEKPYECNQCGRAFSQLAPLIQHQRIHTGEKPYECNQCGRAFSQSSLLIEHQRIHTKEKPYGCNECGKSFSHSSSLSQHERTHTGEKPYECHDCGKSFRQSTHLTQHRRIHTGEKPYACRDCGKAFTHSSSLTKHQRTHTG
UniProt ID: P52742
Variant: T -> A at position 517-517
Variant annotation: in dbSNP:rs2228278
Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.
Reference sequence:
MTPGVRVSTDPEQVTFEDVVVGFSQEEWGQLKPAQRTLYRDVMLDTFRLLVSVGHWLPKPNVISLLEQEAELWAVESRLPQGVYPDLETRPKVKLSVLKQGISEEISNSVILVERFLWDGLWYCRGEDTEGHWEWSCESLESLAVPVAFTPVKTPVLEQWQRNGFGENISLNPDLPHQPMTPERQSPHTWGTRGKREKPDLNVLQKTCVKEKPYKCQECGKAFSHSSALIEHHRTHTGERPYECHECLKGFRNSSALTKHQRIHTGEKPYKCTQCGRTFNQIAPLIQHQRTHTGEKPYECSECGKSFSFRSSFSQHERTHTGEKPYECSECGKAFRQSIHLTQHLRIHTGEKPYQCGECGKAFSHSSSLTKHQRIHTGEKPYECHECGKAFTQITPLIQHQRTHTGEKPYECGECGKAFSQSTLLTEHRRIHTGEKPYGCNECGKTFSHSSSLSQHERTHTGEKPYECSQCGKAFRQSTHLTQHQRIHTGEKPYECNDCGKAFSHSSSLTKHQRIHTGEKPYECNQCGRAFSQLAPLIQHQRIHTGEKPYECNQCGRAFSQSSLLIEHQRIHTKEKPYGCNECGKSFSHSSSLSQHERTHTGEKPYECHDCGKSFRQSTHLTQHRRIHTGEKPYACRDCGKAFTHSSSLTKHQRTHTG
UniProt ID: P52742
Variant: G -> R at position 579-579
Variant annotation: in dbSNP:rs2228279
Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.
Reference sequence:
MTPGVRVSTDPEQVTFEDVVVGFSQEEWGQLKPAQRTLYRDVMLDTFRLLVSVGHWLPKPNVISLLEQEAELWAVESRLPQGVYPDLETRPKVKLSVLKQGISEEISNSVILVERFLWDGLWYCRGEDTEGHWEWSCESLESLAVPVAFTPVKTPVLEQWQRNGFGENISLNPDLPHQPMTPERQSPHTWGTRGKREKPDLNVLQKTCVKEKPYKCQECGKAFSHSSALIEHHRTHTGERPYECHECLKGFRNSSALTKHQRIHTGEKPYKCTQCGRTFNQIAPLIQHQRTHTGEKPYECSECGKSFSFRSSFSQHERTHTGEKPYECSECGKAFRQSIHLTQHLRIHTGEKPYQCGECGKAFSHSSSLTKHQRIHTGEKPYECHECGKAFTQITPLIQHQRTHTGEKPYECGECGKAFSQSTLLTEHRRIHTGEKPYGCNECGKTFSHSSSLSQHERTHTGEKPYECSQCGKAFRQSTHLTQHQRIHTGEKPYECNDCGKAFSHSSSLTKHQRIHTGEKPYECNQCGRAFSQLAPLIQHQRIHTGEKPYECNQCGRAFSQSSLLIEHQRIHTKEKPYGCNECGKSFSHSSSLSQHERTHTGEKPYECHDCGKSFRQSTHLTQHRRIHTGEKPYACRDCGKAFTHSSSLTKHQRTHTG
UniProt ID: P52742
Variant: S -> L at position 592-592
Variant annotation: in dbSNP:rs2228275
Protein function: Plays a role in the regulation of cell morphology and cytoskeletal organization. May be involved in transcriptional regulation.
Reference sequence:
MTPGVRVSTDPEQVTFEDVVVGFSQEEWGQLKPAQRTLYRDVMLDTFRLLVSVGHWLPKPNVISLLEQEAELWAVESRLPQGVYPDLETRPKVKLSVLKQGISEEISNSVILVERFLWDGLWYCRGEDTEGHWEWSCESLESLAVPVAFTPVKTPVLEQWQRNGFGENISLNPDLPHQPMTPERQSPHTWGTRGKREKPDLNVLQKTCVKEKPYKCQECGKAFSHSSALIEHHRTHTGERPYECHECLKGFRNSSALTKHQRIHTGEKPYKCTQCGRTFNQIAPLIQHQRTHTGEKPYECSECGKSFSFRSSFSQHERTHTGEKPYECSECGKAFRQSIHLTQHLRIHTGEKPYQCGECGKAFSHSSSLTKHQRIHTGEKPYECHECGKAFTQITPLIQHQRTHTGEKPYECGECGKAFSQSTLLTEHRRIHTGEKPYGCNECGKTFSHSSSLSQHERTHTGEKPYECSQCGKAFRQSTHLTQHQRIHTGEKPYECNDCGKAFSHSSSLTKHQRIHTGEKPYECNQCGRAFSQLAPLIQHQRIHTGEKPYECNQCGRAFSQSSLLIEHQRIHTKEKPYGCNECGKSFSHSSSLSQHERTHTGEKPYECHDCGKSFRQSTHLTQHRRIHTGEKPYACRDCGKAFTHSSSLTKHQRTHTG
UniProt ID: P52744
Variant: G -> E at position 62-62
Variant annotation: in dbSNP:rs10949946
Protein function: May be involved in transcriptional regulation as a repressor.
Reference sequence:
MKRHEMVVAKHSALCSRFAQDLWLEQNIKDSFQKVTLSRYGKYGHKNLQLRKGCKSVDECKGHQGGFNGLNQCLKITTSKIFQCNKYVKVMHKFSNSNRHKIRHTENKHFRCKECDKSLCMLSRLTQHKKIHTRENFYKCEECGKTFNWSTNLSKPKKIHTGEKPYKCEVCGKAFHQSSILTKHKIIRTGEKPYKCAHCGKAFKQSSHLTRHKIIHTEEKPYKCEQCGKVFKQSPTLTKHQIIYTGEEPYKCEECGKAFNLS
UniProt ID: P52747
Variant: G -> D at position 461-461
Variant annotation: in dbSNP:rs34972213
Protein function: Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8.
Reference sequence:
MLLAQINRDSQGMTEFPGGGMEAQHVTLCLTEAVTVADGDNLENMEGVSLQAVTLADGSTAYIQHNSKDAKLIDGQVIQLEDGSAAYVQHVPIPKSTGDSLRLEDGQAVQLEDGTTAFIHHTSKDSYDQSALQAVQLEDGTTAYIHHAVQVPQSDTILAIQADGTVAGLHTGDATIDPDTISALEQYAAKVSIDGSESVAGTGMIGENEQEKKMQIVLQGHATRVTAKSQQSGEKAFRCEYDGCGKLYTTAHHLKVHERSHTGDRPYQCEHAGCGKAFATGYGLKSHVRTHTGEKPYRCSEDNCTKSFKTSGDLQKHIRTHTGERPFKCPFEGCGRSFTTSNIRKVHVRTHTGERPYYCTEPGCGRAFASATNYKNHVRIHTGEKPYVCTVPGCDKRFTEYSSLYKHHVVHTHSKPYNCNHCGKTYKQISTLAMHKRTAHNDTEPIEEEQEAFFEPPPGQGEDVLKGSQITYVTGVEGDDVVSTQVATVTQSGLSQQVTLISQDGTQHVNISQADMQAIGNTITMVTQDGTPITVPAHDAVISSAGTHSVAMVTAEGTEGEQVAIVAQDLAAFHTASSEMGHQQHSHHLVTTETRPLTLVATSNGTQIAVQLGEQPSLEEAIRIASRIQQGETPGLDD
UniProt ID: P52747
Variant: E -> Q at position 561-561
Variant annotation: in dbSNP:rs10743108
Protein function: Transcriptional activator. Activates the gene for selenocysteine tRNA (tRNAsec). Binds to the SPH motif of small nuclear RNA (snRNA) gene promoters. Participates in efficient U6 RNA polymerase III transcription via its interaction with CHD8.
Reference sequence:
MLLAQINRDSQGMTEFPGGGMEAQHVTLCLTEAVTVADGDNLENMEGVSLQAVTLADGSTAYIQHNSKDAKLIDGQVIQLEDGSAAYVQHVPIPKSTGDSLRLEDGQAVQLEDGTTAFIHHTSKDSYDQSALQAVQLEDGTTAYIHHAVQVPQSDTILAIQADGTVAGLHTGDATIDPDTISALEQYAAKVSIDGSESVAGTGMIGENEQEKKMQIVLQGHATRVTAKSQQSGEKAFRCEYDGCGKLYTTAHHLKVHERSHTGDRPYQCEHAGCGKAFATGYGLKSHVRTHTGEKPYRCSEDNCTKSFKTSGDLQKHIRTHTGERPFKCPFEGCGRSFTTSNIRKVHVRTHTGERPYYCTEPGCGRAFASATNYKNHVRIHTGEKPYVCTVPGCDKRFTEYSSLYKHHVVHTHSKPYNCNHCGKTYKQISTLAMHKRTAHNDTEPIEEEQEAFFEPPPGQGEDVLKGSQITYVTGVEGDDVVSTQVATVTQSGLSQQVTLISQDGTQHVNISQADMQAIGNTITMVTQDGTPITVPAHDAVISSAGTHSVAMVTAEGTEGEQVAIVAQDLAAFHTASSEMGHQQHSHHLVTTETRPLTLVATSNGTQIAVQLGEQPSLEEAIRIASRIQQGETPGLDD