SWISSVAR

1 protein found in SwissVar (13 variants)

with gene/protein name Q96MT3

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)
Q96MT3 PRIC1_HUMAN p.Ile69Thr
p.Asn81His
p.Val121Ile
p.Ala124Thr
p.Thr275Met
p.Arg682Cys
p.Ser739Phe
p.Pro746Ser
p.Asp771Asn
p.Ser799Cys










Q96MT3 PRIC1_HUMAN epilepsy, progressive myoclonic 1b p.Arg104Gln
p.Arg144His
p.Tyr472His



Q96MT3 PRIC1_HUMAN neural tube defects