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.F26L

c.76T>C

Surrounding Variants

1 paper

NM_001360016.2

p.F26I

c.76T>A

1 paper

NM_001360016.2

p.G23_A25delFs

c.68_75del8

1 paper

NM_001360016.2

p.F26F

c.78C>T

1 paper

NM_001360016.2

p.F26L

c.78C>G

1 paper

NM_001360016.2

p.F26L

c.78C>A

1 paper

NM_001360016.2

p.L20_A25del0

c.59_73del15

1 paper

NM_001360016.2

p.A25S

c.73G>T

1 paper

NM_001360016.2

p.A25T

c.73G>A

2 papers

NM_001360016.2

p.H27Y

c.79C>T

NM_000402.4

p.H57Y

c.169C>T

1 paper

NM_001360016.2

p.H27D

c.79C>G

1 paper

NM_001360016.2

p.D24E

c.72T>G

1 paper

NM_001360016.2

p.D24E

c.72T>A