The PHKA2 gene homepage

General information
Gene symbol PHKA2
Gene name phosphorylase kinase, alpha 2 (liver)
Chromosome X
Chromosomal band p22.2-p22.1
Imprinted Unknown
Genomic reference NG_016622.1
Transcript reference NM_000292.2
Associated with diseases GSD-9A
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 81
Unique public DNA variants reported 70
Individuals with public variants 21
Hidden variants 10
Date created September 13, 2012
Date last updated October 03, 2020
Version PHKA2:201003

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 8926
Entrez Gene 5256
PubMed articles PHKA2
OMIM - Gene 300798
OMIM - Diseases GSD-9A (storage disease, glycogen, type IXa1 (GSD-9A))
HGMD PHKA2
GeneCards PHKA2
GeneTests PHKA2
Orphanet PHKA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001337 X phosphorylase kinase, alpha 2 (liver) NM_000292.2 NP_000283.1 81


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