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1 protein found in SwissVar (1 variants)

with gene/protein name O60610

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)
O60610 DIAP1_HUMAN deafness, autosomal dominant, 1 p.Pro678Ser

O60610 DIAP1_HUMAN seizures, cortical blindness, and microcephaly syndrome