The RBCK1 gene homepage

General information
Gene symbol RBCK1
Gene name RanBP-type and C3HC4-type zinc finger containing 1
Chromosome 20
Chromosomal band p13
Imprinted Unknown
Genomic reference NC_000020.10
Transcript reference NM_031229.2
Associated with diseases PGBM1
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 47
Unique public DNA variants reported 43
Individuals with public variants 211
Hidden variants 1
Date created May 03, 2013
Date last updated July 07, 2023
Version RBCK1:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 15864
Entrez Gene 10616
PubMed articles RBCK1
OMIM - Gene 610924
OMIM - Diseases PGBM1 (polyglucosan body myopathy, early-onset, with/without immunodeficiency)
Orphanet RBCK1

Active transcripts




NCBI ID     

NCBI Protein ID     

00017491 20 transcript variant 2 NM_031229.2 NP_112506.2 47

Copyright & disclaimer
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