The PKLR gene homepage

General information
Gene symbol PKLR
Gene name pyruvate kinase, liver and RBC
Chromosome 1
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_011677.1
Transcript reference NM_000298.5
Associated with diseases adenosine triphosphate, elevated, erythrocytes, pyruvate kinase deficiency, red cells
Citation reference(s) -
Curators (1) Richard van Wijk
Total number of public variants reported 825
Unique public DNA variants reported 309
Individuals with public variants 694
Hidden variants 0
Date created May 03, 2013
Date last updated January 15, 2021
Version PKLR:210115

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 9020
Entrez Gene 5313
PubMed articles PKLR
OMIM - Gene 609712
OMIM - Diseases adenosine triphosphate, elevated, erythrocytes
pyruvate kinase deficiency, red cells
Orphanet PKLR

Active transcripts




NCBI ID     

NCBI Protein ID     

00016246 1 transcript variant 1 NM_000298.5 NP_000289.1 825

Copyright & disclaimer
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