The PFKM gene homepage

General information
Gene symbol PFKM
Gene name phosphofructokinase, muscle
Chromosome 12
Chromosomal band q13.11
Imprinted Unknown
Genomic reference NG_016199.1
Transcript reference NM_000289.5, NM_001166686.1
Associated with diseases GSD7
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 20
Unique public DNA variants reported 19
Individuals with public variants 42
Hidden variants 4
Date created May 03, 2013
Date last updated November 27, 2023
Version PFKM:231127

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 8877
Entrez Gene 5213
PubMed articles PFKM
OMIM - Gene 610681
OMIM - Diseases GSD7 (storage disease, glycogen, type VII (GSD-7))
Orphanet PFKM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016012 12 transcript variant 4 NM_000289.5 NP_000280.1 18
00025559 12 transcript variant 1 NM_001166686.1 NP_001160158.1 18


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