The PCK2 gene homepage

General information
Gene symbol PCK2
Gene name phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_008162.1
Transcript reference NM_001018073.1, NM_004563.2, XM_005267726.2
Associated with diseases deficiency, phosphoenolpyruvate carboxykinase, mitochondrial
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 91
Unique public DNA variants reported 15
Individuals with public variants 35
Hidden variants 4
Date created November 30, -0001
Date last updated September 28, 2016
Version PCK2:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:8725
Entrez Gene 5106
PubMed articles PCK2
OMIM - Gene 614095
OMIM - Diseases deficiency, phosphoenolpyruvate carboxykinase, mitochondrial


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00030947 14 Manually created transcript NM_001018073.1 - 91
00022330 14 transcript variant 1 NM_004563.2 NP_004554.2 90
00036257 14 transcript variant X1 XM_005267726.2 XP_005267783.2 -