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.H129D

c.385C>G

Surrounding Variants

1 paper

NM_001360016.2

p.H129Y

c.385C>T

1 paper

NM_001360016.2

p.H129insFs

c.385_386insA

3 papers

NM_001360016.2

p.L128L

c.384C>T

2 papers

NM_001360016.2

p.H129P

c.386A>C

11 papers

NM_001360016.2

p.L128R

c.383T>G

69 papers

NM_001360016.2

p.L128P

c.383T>C

2 papers

NM_001360016.2

p.H129H

c.387C>T

1 paper

NM_001360016.2

p.L128F

c.382C>T

1 paper

NM_001360016.2

p.N126_H129del4

c.376_386del12

2 papers

NM_000402.4

p.A157delins

c.471delinsT

NM_001360016.2

p.A127A

c.381C>T

3 papers

NM_001360016.2

p.A127S

c.379G>T

1 paper

NM_001360016.2

p.A127P

c.379G>C