SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name O43316

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)
O43316 PAX4_HUMAN diabetes mellitus, non-insulin-dependent p.Arg129Trp

O43316 PAX4_HUMAN diabetes mellitus, insulin-dependent
O43316 PAX4_HUMAN diabetes mellitus, ketosis-prone p.Arg45Trp
p.Arg141Trp


O43316 PAX4_HUMAN maturity-onset diabetes of the young 9 p.Arg172Trp