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.A134V

c.401C>T

Surrounding Variants

1 paper

NM_001360016.2

p.A134A

c.402C>G

1 paper

NM_001360016.2

p.S132_Q133insFs

c.396_397insAC

1 paper

NM_001360016.2

p.Q133Q

c.399G>A

6 papers

NM_000402.4

p.N165D

c.493A>G

NM_001360016.2

p.N135D

c.403A>G

1 paper

NM_001360016.2

p.N135I

c.404A>T

4 papers

NM_001360016.2

p.N135S

c.404A>G

16 papers

NM_001360016.2

p.N135T

c.404A>C

1 paper

NM_001360016.2

p.Q133insFs

c.398_399ins4

1 paper

NM_001360016.2

p.Q133_A134insT

c.397_401ins3

61 papers

NM_001360016.2

p.R136C

c.406C>T

NM_000402.4

p.R166C

c.496C>T

2 papers

NM_001360016.2

p.S132S

c.396A>C

5 papers

NM_001360016.2

p.R136H

c.407G>A

NM_000402.4

p.R166H

c.497G>A