Varaico: Literature-Extracted Genetic Variants

G6PD

1,597 papers

RefSeq Summary

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the def...

Pfam Domains

G6PD_Naa 35–210UCSCGlucose-6-phosphate dehydrogenase, NAD binding domain

G6PD_Caa 212–509UCSCGlucose-6-phosphate dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

glucose-6-phosphate dehydrogenase

HGNC Alias Symbol

G6PD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001360016.2

p.G174del1

c.520_521delCCC

Surrounding Variants

1 paper

NM_001360016.2

p.R175G

c.523A>G

3 papers

NM_001360016.2

p.R175K

c.524G>A

14 papers

NM_001360016.2

p.F173F

c.519C>T

23 papers

NM_001360016.2

p.F173L

c.519C>G

16 papers

NM_001360016.2

p.F173L

c.519C>A

9 papers

NM_001360016.2

p.D176G

c.527A>G

1 paper

NM_001360016.2

p.D176A

c.527A>C

1 paper

NM_001360016.2

p.D176insFs

c.526dupG

1 paper

NM_001360016.2

p.V169_R175del7

c.505_524del21

1 paper

NM_001360016.2

p.F173C

c.518T>G

1 paper

NM_001360016.2

p.P172insFs

c.515dupC

2 papers

NM_001360016.2

p.F173V

c.517T>G