RIPK1 (NM_003804.6) sequence variants
(RIP, RIP1, IMD57, RIP-1)

Editor(s): Qing ZHOU

General web sites
DNA	NC_000006.12 GRCh38.p13	ENSG00000137275 GRCh38.p13
	NC_000006.11 GRCh37.p13	ENSG00000137275 GRCh37.p13
	NG_063914.1
mRNA	NM_003804.6
CCDS	CCDS4482.1
Protein	NP_003795.2
NCBI Gene	8737
OMIM Gene	603453
OMIM Disease	618852 618108
Nomenclature	HGNC

PubMed of the initial paper: A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. Tao P & al Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease. Lalaoui N & al Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Cuchet-Lourenço D & al
Other links: MAP VIEW ORPHANET: Orphan disease database