sujigwak/NVAR huggingface dataset:
UniProt ID: Q9W4D2
Variant: Y -> C at position 482-482
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: S -> G at position 490-490
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: E -> G at position 492-492
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Q -> R at position 493-493
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: S -> G at position 497-497
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: T -> A at position 510-510
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Y -> C at position 513-513
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Q -> R at position 516-516
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: R -> G at position 520-520
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Y -> C at position 521-521
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Q -> R at position 525-525
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: N -> G at position 540-540
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: Y -> E at position 551-551
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: P -> R at position 552-552
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: G -> F at position 553-553
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: S -> E at position 554-554
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W4D2
Variant: S -> I at position 555-555
Variant annotation: in RNA edited version
Protein function: May be involved in gene regulation during development. Binds RNA.
Reference sequence:
MDADKQLERQLEKELDEMPAEDLDDDAYDEYDLIVIPDQGKGSPQQGHSESPQQEEEHKSEELRQRSRPTWPPSSAGGDMTTIELISSDDEPSVEETEGGNAAGRGRARNDSSSSSDDVGVIEGSELESNSEVSSDSDSDSDNAGGGNQLERSYQELNALPSKKFAQMVSLIGIAFKLNDLEKIESSVLELQNLATVPAHVWLKYLKARLVVTQTDEERKAFEEQCAKALGYYYSIPLSEYVVNYLVDQGNVQNHVLWAKLLADYDVERPDFGDKLRSLISTITDENEAAAFVEMLQKHCVTWTCNVEQRQMIKSVVDKFKQHLDETTRGWDWSEQHKAHVYDVETLSLDDDLKNAVIRFIFERSVAKFPIVDVLWLSYIEFIQFEGVTVPENEDENEVTAEMVAKRAKRLGKGFLRNTELDLANRGVRSHPSVQLNHRFLDLMERSDFELAEVDEEIRLILQRIVTDMDMTVELHLDYLAYRIRNTNASDEQQVASLRAAFNHAWEELTVLYGDQADTRYEVLQLWAQVEYTQLGSPDNGREIWRQIMGYPGSSIRGLLWLNFAQMESEYNGGHGTRDVLRKALSQPVLENGLMVQEFFRRYERCYGTYESIAACQALDLPVEYVKPRSRIKPNSQSAYPRQQKLKPRQQQQQTNREPLNREQRRRQAHEQQQQQQQQQKHGIKKSRTEPSGGATSPPSKVKGPANAEAKESNFKYSPNMEINKIFVRNLHPACSKEELHELFSPFGTIKDVRLVHKLNKQFKGIAYVEFEKPGEAQRAVAGRDGCLFKGMNISVAISNPPPRGTSAVKPSVAPKRRVPTSLIPTTLVRQEVAAKKLRLLLPEPGDISSTSASVDVAIKREANGEEQKGDVQERDEQKGEEQKGEEQKGEEPKGEEQKGDDQIGEEQSGVEQKGDEKKEEEMPAAVPKSNDDFRKLFLKD
UniProt ID: Q9W5D4
Variant: T -> GS at position 59-59
Variant annotation: in allele tw[1]
Protein function: Rt/POMT1 and tw/POMT2 function as a protein O-mannosyltransferase in association with each other to generate and maintain normal muscle development.
Reference sequence:
MAASVVKTPKCPRRGSVKDVAQNAPRTAPTSSKEANWNWWLLLATVFLVTFATRFYKVTEPDHICWDETHFGKMGSWYINRTFFFDVHPPLGKMLIGLSGYLTGYNGTFPFEKPGDKYNETRYQGMRYFCTTLGALIMPMGFDTVYDLTRSHEAALLAAAYLIFDVGLLTLNQYILLDPILLFFMMASVWGMVKVSKSTASGGSYGLRWWLWLFLTGTMLSCTISVKFVGLFVVLLVGLHTATELWLILGDLGQPILETVKQLACRAITLIVWPVLLYILFFYIHLSVLNRSGNGDGFYSSAFQSRLIGNSLYNASMPRDVAYGSLVTIKNHKTGGGYLHSHHHLYPKGSGARQQQVTTYTHKDENNKWLIRPHNKPGPPKGKVQILRHGDLVRLTHMATRRNLHSHNEPAPMTKKHLQVTGYGELGLGDANDVWRVLIVGGKVNETVHTVTSRLKFIHLLQNCALTSSGKQLPKWGFEQQEVSCNPNVRDKNSQWNVEDNEHKLMPSVSFSVYAPGFFARFLESHAVMLQGNAGLKPKEGEVTSRPWQWPINYRGQFFSGSSYRIYLLGNPLIWWSNLVFLALFVTVFLCNAVVQQRRAGFARSAAQNQAQVPDSETVAQDEESEHSTTDICSCCTPAKEIVPKAVPSGSPEAPNPAQSLRAAAWLFLGWMLHYLPFWAMGRVLYFHHYFPALIFNSLLTGVMYNYILRVLPKWIHHVILGLVLSILVYSFAAFSPLAYGMSGPLANEPNSTMYNLKWLSTWEF
UniProt ID: Q9W7E7
Variant: T -> I at position 429-429
Variant annotation: in allele DTC24; dorsalized embryos
Protein function: Involved in ventralization. May mediate Bmp2b signaling during early phases of embryonic dorsal-ventral pattern formation. Required for initiation of Smad1 expression during gastrulation.
Reference sequence:
MTSMSSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKKKGAMEDLEKALSSPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLEVCEYPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHSEFNPQHSLLVQFRNLSHNEPHMPLNATFPESFQQHSGGSSFPISPNSPYPPSPASSGTYPNSPASSGPSSPFQLPADTPPPAYMPPDEQMGQDGSQSMETGSSLAPQNMPRGDVQPVEYQEPSHWCSIVYYELNNRVGEAYHASSTSVLVDGFTDPSNNKNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECLSDTSIFVQSRNCNYHHGFHPTTVCKIPSGCSLKIFNNQEFAQLLAQSVNHGFEAVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEVHLHGPLQWLDKVLTQMGSPLNPISSVS
UniProt ID: Q9WTU3
Variant: V -> L at position 5-5
Protein function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages, isoform 5 may participate in the control of podosome and invadopodia formation.
Reference sequence:
MAARVLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLEAGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNLIRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPEWSKNVEYTFTGIYTFESLVKIIARGFCIDGFTFLRDPWNWLDFSVIMMAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTRGFDWEEYINNKTNFYMVPGMLEPLLCGNSSDAGQCPEGFQCMKAGRNPNYGYTSFDTFSWAFLALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQATLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEDGVGSPRSSSELSKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKFSIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDSLFIPIRARERRSSYSGYSGYSQCSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGPGSHIGRLLPEATTEVEIKKKGPGSLLVSMEQLASYGRKDRINSIMSVVTNTLVEELEESQRKCPPCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQFEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELGLADVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISQECKLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWAKVKVHAFMQAHFKQREADEVKPLDELYEKKANCIANHTGVDIHRNGDFQKNGNGTTSGIGSSVEKYIIDEDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIKPEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWFETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFFTNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIDEVNNKTDCEKLMEGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPDYEGNIYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLVFVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEAGIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPSVGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDATQFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSGELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICRKITSNKLENGGTHREKKESTPSTASLPSYDSVTKPDKEKQQRAEEGRRERAKRQKEVRESKC