SWISSVAR
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1 protein found in SwissVar (12 variants)

with gene/protein name Q8WVQ1

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)
Q8WVQ1 CANT1_HUMAN desbuquois dysplasia 1 p.Asp112Glu
p.Trp125Cys
p.Met165Thr
p.Leu224Pro
p.Val226Met
p.Pro299Leu
p.Arg300Cys
p.Arg300His
p.Ser303Arg
p.Ala360Asp
p.Ile374Asn











Q8WVQ1 CANT1_HUMAN epiphyseal dysplasia, multiple, 7 p.Ile171Phe
p.Val226Met