The G6PC gene homepage

NOTE: gene name changed from G6PC to G6PC1
General information
Gene symbol G6PC
Gene name glucose-6-phosphatase, catalytic subunit
Chromosome 17
Chromosomal band q21
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_000151.3
Exon/intron information NM_000151.3 exon/intron table
Associated with diseases GSD1A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 108
Unique public DNA variants reported 51
Individuals with public variants 148
Hidden variants 3
Download all this gene's data Download all data
Notes NOTE: gene name changed from G6PC to G6PC1
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 02, 2024
Version G6PC:240102

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_000151.3.
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 https://www.LOVD.nl/G6PC1
HGNC 4056
Entrez Gene 2538
PubMed articles G6PC
OMIM - Gene 613742
OMIM - Diseases GSD1A (storage disease, glycogen, type 1A (GSD-1A))
HGMD G6PC
GeneCards G6PC
GeneTests G6PC
Orphanet G6PC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008247 17 transcript variant 1 NM_000151.3 NP_000142.2 108


Copyright & disclaimer
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