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1 protein found in SwissVar (1 variants)

with gene/protein name Q96RE7

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)
Q96RE7 NACC1_HUMAN neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination p.Arg298Trp