RBCK1 (NM_031229.4) sequence variants
(heme-oxidized IRP2 ubiquitin ligase 1, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4)

General web sites
LRG	LRG_728
DNA	NC_000020.11 GRCh38.p13	ENSG00000125826 GRCh38.p13
	NC_000020.10 GRCh37.p13	ENSG00000125826 GRCh37.p13
	NG_033233.1
mRNA	NM_031229.4	ENST00000356286.10
CCDS	CCDS13000.2
Protein	NP_112506.2	ENSP00000348632.5
NCBI Gene	10616
OMIM Gene	610924
OMIM Disease	615895
Nomenclature	HGNC

PubMed of the initial paper: Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Boisson B & al
Other links: MAP VIEW ORPHANET: Orphan disease database