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.G316G

c.948C>T

Surrounding Variants

51 papers

NM_001360016.2

p.E317K

c.949G>A

NM_000402.4

p.E347K

c.1039G>A

2 papers

NM_001360016.2

p.G316D

c.947G>A

1 paper

NM_001360016.2

p.G316S

c.946G>A

1 paper

NM_001360016.2

p.E315D

c.945G>T

1 paper

NM_001360016.2

p.E315D

c.945G>C

1 paper

NM_001360016.2

p.E315G

c.944A>G

1 paper

NM_001360016.2

p.E315K

c.943G>A

2 papers

NM_001360016.2

p.T319S

c.955A>T

2 papers

NM_001360016.2

p.T319S

c.956C>G

1 paper

NM_001360016.2

p.D313D

c.939T>C

2 papers

NM_001360016.2

p.T319T

c.957C>T

1 paper

NM_001360016.2

p.T319T

c.957C>A