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 GSD-7
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 15
Individuals with public variants 42
Hidden variants 4
Date created May 03, 2013
Date last updated September 17, 2021
Version PFKM:210917

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 GSD-7 (storage disease, glycogen, type VII (GSD-7))
Orphanet PFKM

Active transcripts




NCBI ID     

NCBI Protein ID     

00016012 12 transcript variant 4 NM_000289.5 NP_000280.1 13
00025559 12 transcript variant 1 NM_001166686.1 NP_001160158.1 13

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