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

5 papers

NM_001360016.2

p.G310E

c.929G>A

Surrounding Variants

1 paper

NM_001360016.2

p.G310V

c.929G>T

1 paper

NM_001360016.2

p.G310G

c.930G>C

1 paper

NM_001360016.2

p.G310R

c.928G>C

1 paper

NM_001360016.2

p.G310G

c.930G>A

1 paper

NM_001360016.2

p.G310R

c.928G>A

1 paper

NM_001360016.2

p.V309V

c.927G>T

3 papers

NM_001360016.2

p.V309E

c.926T>A

1 paper

NM_001360016.2

p.V309M

c.925G>A

8 papers

NM_000402.4

p.P342S

c.1024C>T

1 paper

NM_001360016.2

p.Y308Y

c.924C>T

1 paper

NM_001360016.2

p.Y308*

c.924C>A

1 paper

NM_001360016.2

p.Q307delFs

c.921delC