SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name Q8NCH0

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)
Q8NCH0 CHSTE_HUMAN ehlers-danlos syndrome, musculocontractural type 1 p.Arg135Gly
p.Leu137Gln
p.Arg213Pro
p.Pro281Leu
p.Cys289Ser
p.Tyr293Cys