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

3 papers

NM_001360016.2

p.R120G

c.358C>G

Surrounding Variants

3 papers

NM_001360016.2

p.R120C

c.358C>T

2 papers

NM_001360016.2

p.R120L

c.359G>T

4 papers

NM_001360016.2

p.Q119Q

c.357G>A

3 papers

NM_001360016.2

p.R120H

c.359G>A

2 papers

NM_001360016.2

p.R120R

c.360C>T

2 papers

NM_001360016.2

p.Q119P

c.356A>C

1 paper

NM_001360016.2

p.Y118Y

c.354C>T

1 paper

NM_001360016.2

p.Y118*

c.354C>G

1 paper

NM_001360016.2

p.Y118S

c.353A>C

7 papers

NM_001360016.2

p.Y118H

c.352T>C

4 papers

NM_001360016.2

p.N122I

c.365A>T

2 papers

NM_001360016.2

p.N122S

c.365A>G