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

6 papers

NM_001360016.2

p.G247R

c.739G>A

Surrounding Variants

2 papers

NM_001360016.2

p.G247R

c.739G>C

1 paper

NM_001360016.2

p.G247E

c.740G>A

2 papers

NM_001360016.2

p.R246R

c.738C>T

4 papers

NM_001360016.2

p.R246L

c.737G>T

3 papers

NM_001360016.2

p.R246H

c.737G>A

2 papers

NM_001360016.2

p.G248R

c.742G>C

1 paper

NM_001360016.2

p.G245G

c.735T>C

4 papers

NM_001360016.2

p.G248D

c.743G>A

1 paper

NM_001360016.2

p.G245D

c.734G>A

1 paper

NM_001360016.2

p.G248_Y249insFs

c.744_745insGG

1 paper

NM_001360016.2

p.G245S

c.733G>A

1 paper

NM_001360016.2

p.E244E

c.732G>A