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_000402.4

p.S162delFs

c.484delA

Surrounding Variants

2 papers

NM_001360016.2

p.S132S

c.396A>C

1 paper

NM_001360016.2

p.Q133_A134insT

c.397_401ins3

133 papers

NM_001360016.2

p.G131V

c.392G>T

NM_000402.4

p.G161V

c.482G>T

1 paper

NM_001360016.2

p.G131A

c.392G>C

2 papers

NM_001360016.2

p.G131E

c.392G>A

1 paper

NM_001360016.2

p.Q133insFs

c.398_399ins4

1 paper

NM_001360016.2

p.S132_Q133insFs

c.396_397insAC

1 paper

NM_001360016.2

p.Q133Q

c.399G>A

1 paper

NM_001360016.2

p.A134V

c.401C>T

1 paper

NM_001360016.2

p.A134A

c.402C>G

1 paper

NM_001360016.2

p.N126_H129del4

c.376_386del12

2 papers

NM_001360016.2

p.H129H

c.387C>T