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

7 papers

NM_001360016.2

p.Y322H

c.964T>C

Surrounding Variants

2 papers

NM_001360016.2

p.G321insFs

c.961_962insG

1 paper

NM_001360016.2

p.Y322N

c.964T>A

6 papers

NM_000402.4

p.G351V

c.1052G>T

NM_001360016.2

p.G321V

c.962G>T

6 papers

NM_001360016.2

p.G321E

c.962G>A

12 papers

NM_001360016.2

p.G321R

c.961G>A

3 papers

NM_000402.4

p.L353L

c.1057C>T

1 paper

NM_001360016.2

p.L323R

c.968T>G

117 papers

NM_001360016.2

p.L323P

c.968T>C

1 paper

NM_001360016.2

p.Y322delFs

c.966delG

1 paper

NM_001360016.2

p.L323L

c.969G>A

1 paper

NM_001360016.2

p.K320R

c.959A>G

1 paper

NM_001360016.2

p.K320*

c.958A>T