SWISSVAR
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1 protein found in SwissVar (27 variants)

with gene/protein name Q05066

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)
Q05066 SRY_HUMAN 46,xy sex reversal 1 p.Ser3Leu
p.Ser18Asn
p.Val60Leu
p.Val60Ala
p.Arg62Gly
p.Met64Arg
p.Met64Ile
p.Phe67Val
p.Ile68Thr
p.Arg75Met
p.Arg76Ser
p.Met78Thr
p.Asn87Tyr
p.Ile90Met
p.Ser91Gly
p.Gly95Arg
p.Gly95Glu
p.Leu101His
p.Lys106Ile
p.Pro108Arg
p.Phe109Ser
p.Ala113Thr
p.Pro125Leu
p.Tyr127Cys
p.Tyr127Phe
p.Pro131Arg
p.Arg133Trp



























Q05066 SRY_HUMAN turner syndrome
Q05066 SRY_HUMAN 46,xx sex reversal 1