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

1 paper

NM_001360016.2

p.M212K

c.635T>A

Surrounding Variants

2 papers

NM_001360016.2

p.M212I

c.636G>A

2 papers

NM_001360016.2

p.M212L

c.634A>T

15 papers

NM_001360016.2

p.M212V

c.634A>G

2 papers

NM_001360016.2

p.M212L

c.634A>C

1 paper

NM_001360016.2

p.M212insFs

c.634_635ins5

12 papers

NM_001360016.2

p.V213L

c.637G>T

6 papers

NM_001360016.2

p.V213L

c.637G>C

2 papers

NM_001360016.2

p.L211L

c.633C>T

2 papers

NM_000402.4

p.L241L

c.723C>G

NM_001360016.2

p.L211L

c.633C>G

2 papers

NM_001360016.2

p.V213A

c.638T>C

2 papers

NM_001360016.2

p.L211F

c.631C>T

3 papers

NM_001360016.2

p.L211I

c.631C>A