G6PD gene homepage

NOTE: when referring to this database please cite Minucci 2012.
General information
Gene symbol G6PD
Gene name glucose-6-phosphate dehydrogenase
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference LRG_148
Transcript reference NM_000402.3, NM_001042351.1
Exon/intron information NM_000402.3 exon/intron table, NM_001042351.1 exon/intron table
Associated with diseases favism, HAG, MLRS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Ettore Capoluongo
Total number of public variants reported 11001
Unique public DNA variants reported 244
Individuals with public variants 10454
Hidden variants 14
Download all this gene's data Download all data
Notes NOTE: when referring to this database please cite Minucci 2012.
Date created March 06, 2009
Date last updated August 07, 2019
Version G6PD:190807

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_000402.3, NM_001042351.1.
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/G6PD
External URL Orphanet
HGNC 4057
Entrez Gene 2539
PubMed articles G6PD
OMIM - Gene 305900
OMIM - Diseases favism (favism, susceptibility to)
HAG (anemia, hemolytic, due to G6PD deficiency (HAG, incl favism))
MLRS (malaria, susceptibility to, resistance (MLRS))
GeneCards G6PD
GeneTests G6PD

Active transcripts




NCBI ID     

NCBI Protein ID     

00025456 X transcript variant 1 NM_000402.3 NP_000393.4 11001
00025458 X transcript variant 2 NM_001042351.1 NP_001035810.1 11001

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.