SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name A2RRP1

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)
A2RRP1 NBAS_HUMAN short stature, optic nerve atrophy, and pelger-huet anomaly p.Arg1914His

A2RRP1 NBAS_HUMAN infantile liver failure syndrome 2 p.Pro348Ser
p.Pro777His
p.Val842Phe
p.Leu903Arg
p.Ile984Ser
p.Leu1055Pro






A2RRP1 NBAS_HUMAN multisystem disease affecting the liver, eye, immune system, connective tissue, and bone