The PC gene homepage

General information
Gene symbol PC
Gene name pyruvate carboxylase
Chromosome 11
Chromosomal band q13.4-q13.5
Imprinted Unknown
Genomic reference NG_008319.1
Transcript reference NM_000920.3, NM_001040716.1, NM_022172.2, XM_005274030.1, XM_005274031.1, XM_005274032.1
Associated with diseases ID, Pyruvate carboxylase deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 10
Unique public DNA variants reported 7
Individuals with public variants 9
Hidden variants 21
Date created October 30, 2013
Date last updated September 20, 2016
Version PC:160920

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:8636
Entrez Gene 5091
PubMed articles PC
OMIM - Gene 608786
OMIM - Diseases Pyruvate carboxylase deficiency
HGMD PC
GeneCards PC
GeneTests PC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005575 11 transcript variant 2 NM_022172.2 NP_071504.2 10
00018652 11 Manually created transcript. (removed from reference sequence) NM_000920.3 - 10
00018653 11 Manually created transcript. (removed from reference sequence) NM_001040716.1 - 10
00034443 11 transcript variant X3 XM_005274032.1 XP_005274089.1 -
00034444 11 transcript variant X1 XM_005274030.1 XP_005274087.1 -
00034445 11 transcript variant X2 XM_005274031.1 XP_005274088.1 -


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