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.E148D

c.444G>T

Surrounding Variants

1 paper

NM_001360016.2

p.E148D

c.444G>C

8 papers

NM_001360016.2

p.A149T

c.445G>A

NM_000402.4

p.A179T

c.535G>A

2 papers

NM_001360016.2

p.E148G

c.443A>G

1 paper

NM_001360016.2

p.E148A

c.443A>C

2 papers

NM_001360016.2

p.E148Q

c.442G>C

6 papers

NM_001360016.2

p.E148K

c.442G>A

1 paper

NM_001360016.2

p.A149V

c.446C>T

1 paper

NM_001360016.2

p.A149A

c.447C>T

1 paper

NM_001360016.2

p.Y147Y

c.441C>T

1 paper

NM_001360016.2

p.Y147*

c.441C>A

6 papers

NM_001360016.2

p.V150I

c.448G>A

NM_000402.4

p.V180I

c.538G>A

2 papers

NM_001360016.2

p.Y147C

c.440A>G