The POLR3B gene homepage

General information
Gene symbol POLR3B
Gene name polymerase (RNA) III (DNA directed) polypeptide B
Chromosome 12
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_031837.1
Transcript reference NM_018082.5
Exon/intron information NM_018082.5 exon/intron table
Associated with diseases CMT1I, HLD, HLD8, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 371
Unique public DNA variants reported 97
Individuals with public variants 312
Hidden variants 14
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created December 01, 2011
Date last updated February 26, 2024
Version POLR3B:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_018082.5.
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
Homepage URL https://www.LOVD.nl/POLR3B
HGNC 30348
Entrez Gene 55703
PubMed articles POLR3B
OMIM - Gene 614366
OMIM - Diseases CMT1I (Charcot-Marie-Tooth disease, demyelinating, type 1I)
HLD8 (leukodystrophy, hypomyelinating, type 8, with/without oligodontia and/or hypogonadotropic hypogonadism (HLD8))
HGMD POLR3B
GeneCards POLR3B
GeneTests POLR3B
Orphanet POLR3B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016517 12 transcript variant 1 NM_018082.5 NP_060552.4 371


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