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.K45insFs

c.133_134insT

Surrounding Variants

1 paper

NM_001360016.2

p.K45E

c.133A>G

1 paper

NM_001360016.2

p.K45_K46insG

c.133_137ins3

1 paper

NM_001360016.2

p.A44A

c.132C>G

2 papers

NM_001360016.2

p.K45K

c.135G>A

1 paper

NM_001360016.2

p.A44V

c.131C>T

67 papers

NM_001360016.2

p.A44G

c.131C>G

NM_000402.4

p.A74G

c.221C>G

1 paper

NM_000402.4

p.A74delFs

c.220delC

1 paper

NM_001360016.2

p.A44S

c.130G>T

6 papers

NM_001360016.2

p.A44T

c.130G>A

1 paper

NM_001360016.2

p.D42_L43delFs

c.126_129del4

1 paper

NM_000402.4

p.K76Q

c.226A>C

1 paper

NM_001360016.2

p.L43L

c.129G>A