SWISSVAR
Home  |  Contact

1 protein found in SwissVar (6 variants)

with gene/protein name P38606

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)
P38606 VATA_HUMAN cutis laxa, autosomal recessive, 2d p.Gly72Asp
p.Arg338Cys


P38606 VATA_HUMAN epileptic encephalopathy, infantile or early childhood, 3 p.Pro27Arg
p.Asp100Tyr
p.Asp349Asn
p.Asp371Gly