The PHKB gene homepage

General information
Gene symbol PHKB
Gene name phosphorylase kinase, beta
Chromosome 16
Chromosomal band q12-q13
Imprinted Unknown
Genomic reference NG_016598.1
Transcript reference NM_000293.2
Exon/intron information NM_000293.2 exon/intron table
Associated with diseases GSD9B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 39
Unique public DNA variants reported 28
Individuals with public variants 139
Hidden variants 2
Download all this gene's data Download all data
Date created April 29, 2010
Date last updated May 09, 2022
Version PHKB:220509

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_000293.2.
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
HGNC 8927
Entrez Gene 5257
PubMed articles PHKB
OMIM - Gene 172490
OMIM - Diseases GSD9B (storage disease, glycogen, type IXb (GSD-9B))
GeneCards PHKB
GeneTests PHKB
Orphanet PHKB

Active transcripts




NCBI ID     

NCBI Protein ID     

00016100 16 transcript variant 1 NM_000293.2 NP_000284.1 39

Copyright & disclaimer
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