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.R215Splc

c.645-17C>T

Surrounding Variants

1 paper

NM_001360016.2

p.R215Splc

c.645-12C>T

1 paper

NM_001360016.2

p.R215Splc

c.645-9T>C

1 paper

NM_001360016.2

p.R215Splc

c.645-8C>T

1 paper

NM_001360016.2

p.R215Splc

c.645-7C>T

1 paper

NM_001360016.2

p.R215Splc

c.645-3C>T

1 paper

NM_001360016.2

p.R215K

c.644G>A

1 paper

NM_001360016.2

p.R215S

c.645A>T

1 paper

NM_001360016.2

p.R215S

c.645A>C

2 papers

NM_001360016.2

p.F216_A217insA

c.646_650ins3

9 papers

NM_001360016.2

p.F216L

c.646T>C

13 papers

NM_001360016.2

p.F216L

c.648T>G

1 paper

NM_001360016.2

p.F216F

c.648T>C