1 protein found in SwissVar (3 variants)

with gene/protein name O43623

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)
O43623 SNAI2_HUMAN p.Pro31Thr

O43623 SNAI2_HUMAN neural tube defects p.Asp119Glu

O43623 SNAI2_HUMAN waardenburg syndrome 2d
O43623 SNAI2_HUMAN piebald trait