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

12 papers

NM_001360016.2

p.L235F

c.703C>T

NM_000402.4

p.L265F

c.793C>T

Surrounding Variants

1 paper

NM_001360016.2

p.L235I

c.703C>A

1 paper

NM_000402.4

p.I264insFs

c.792dupC

1 paper

NM_001360016.2

p.L235P

c.704T>C

4 papers

NM_001360016.2

p.I234T

c.701T>C

1 paper

NM_001360016.2

p.L235L

c.705C>T

1 paper

NM_000402.4

p.T266A

c.796A>G

1 paper

NM_001360016.2

p.V233insFs

c.698_699ins4

2 papers

NM_001360016.2

p.T236T

c.708C>T

6 papers

NM_001360016.2

p.V233L

c.697G>C

4 papers

NM_001360016.2

p.V233I

c.697G>A

3 papers

NM_001360016.2

p.F237S

c.710T>C

1 paper

NM_001360016.2

p.C232C

c.696C>T