SWISSVAR
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1 protein found in SwissVar (118 variants)

with gene/protein name P55017

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P55017 S12A3_HUMAN gitelman syndrome p.Thr60Met
p.Asp62Asn
p.Asp62His
p.Glu68Lys
p.His69Asn
p.Arg83Trp
p.Arg83Gln
p.His90Tyr
p.Glu121Asp
p.Arg135Cys
p.Arg145Cys
p.Arg145His
p.Ile150Met
p.Val153Met
p.Ile154Phe
p.Leu157Pro
p.Arg158Gln
p.Arg158Leu
p.Thr163Met
p.Ala166Val
p.Trp172Arg
p.Ser178Leu
p.Thr180Lys
p.Gly186Asp
p.Ile192Thr
p.Thr194Ile
p.Arg209Trp
p.Arg209Gln
p.Leu215Pro
p.Ala226Thr
p.Gly230Asp
p.Thr235Arg
p.Asp259Asn
p.Arg261His
p.Leu272Pro
p.Ser283Tyr
p.Lys284Arg
p.Thr304Met
p.Thr304Pro
p.Ala313Val
p.Gly316Val
p.Arg321Trp
p.Arg334Trp
p.Gly342Ala
p.Pro349Leu
p.Gly374Val
p.Gly374Glu
p.Thr382Met
p.Thr392Ile
p.Arg399Cys
p.Cys421Arg
p.Gly439Ser
p.Asn442Ser
p.Gly463Arg
p.Gly463Glu
p.Ala464Thr
p.Ser475Cys
p.Lys478Glu
p.Asp486Asn
p.Tyr489His
p.Gly496Cys
p.Arg507Cys
p.Ala523Thr
p.Asn534Ser
p.Phe536Leu
p.Leu542Pro
p.Ser546Gly
p.Ser555Leu
p.Pro560Arg
p.Pro560His
p.Ala569Glu
p.Ala569Val
p.Val578Met
p.Ala588Val
p.Gly613Ser
p.Ser615Leu
p.Ser615Trp
p.Leu623Pro
p.Gly630Val
p.Arg642His
p.Arg642Gly
p.Arg642Cys
p.Pro643Leu
p.Val647Met
p.Thr649Arg
p.Arg655Leu
p.Arg655His
p.Arg655Cys
p.Met672Ile
p.Val677Met
p.Val677Leu
p.Gly729Val
p.Gly731Arg
p.Pro735Arg
p.Leu738Arg
p.Gly741Arg
p.Pro751Leu
p.Ser824Thr
p.Asp839Asn
p.Leu849Phe
p.Leu849His
p.Leu850Pro
p.Arg852Ser
p.Arg852Cys
p.Arg852His
p.Arg862Cys
p.Gly867Ser
p.Arg871His
p.Met872Thr
p.Arg887Gln
p.Arg934Trp
p.Arg935Trp
p.Arg955Gln
p.Arg958Gly
p.Gly980Arg
p.Cys985Tyr
p.Arg1009Gln
p.Gln1021Arg