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.K293K

c.879A>G

Surrounding Variants

1 paper

NM_001360016.2

p.L292L

c.876G>A

1 paper

NM_001360016.2

p.C294C

c.882C>T

1 paper

NM_001360016.2

p.C294*

c.882C>A

1 paper

NM_000402.4

p.L322S

c.965T>C

1 paper

NM_001360016.2

p.I295V

c.883A>G

1 paper

NM_001360016.2

p.C294delFs

c.882delG

1 paper

NM_001360016.2

p.I295S

c.884T>G

1 paper

NM_001360016.2

p.I295delFs

c.883delT

1 paper

NM_001360016.2

p.I295I

c.885C>T

2 papers

NM_001360016.2

p.S296A

c.886T>G

1 paper

NM_001360016.2

p.S296T

c.886T>A

242 papers

NM_001360016.2

p.V291M

c.871G>A

NM_000402.4

p.V321M

c.961G>A