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
Exon/intron information NM_000298.5 exon/intron table
Associated with diseases pyr.kin. deficiency, adenosine triphosphate, elevated
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Richard van Wijk
Total number of public variants reported 1354
Unique public DNA variants reported 424
Individuals with public variants 1071
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated May 09, 2022
Version PKLR: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_000298.5.
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 9020
Entrez Gene 5313
PubMed articles PKLR
OMIM - Gene 609712
OMIM - Diseases pyr.kin. deficiency (pyruvate kinase deficiency)
adenosine triphosphate, elevated
GeneCards PKLR
GeneTests PKLR
Orphanet PKLR

Active transcripts




NCBI ID     

NCBI Protein ID     

00016246 1 transcript variant 1 NM_000298.5 NP_000289.1 1354

Copyright & disclaimer
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