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

2 papers

NM_001360016.2

p.I167F

c.499A>T

Surrounding Variants

9 papers

NM_001360016.2

p.R166H

c.497G>A

1 paper

NM_001360016.2

p.I167I

c.501C>A

8 papers

NM_001360016.2

p.R166C

c.496C>T

2 papers

NM_001360016.2

p.I168I

c.504C>T

1 paper

NM_001360016.2

p.N165T

c.494A>C

2 papers

NM_001360016.2

p.V169M

c.505G>A

55 papers

NM_001360016.2

p.N165D

c.493A>G

2 papers

NM_001360016.2

p.W164R

c.490T>C

2 papers

NM_001360016.2

p.W164R

c.490T>A

1 paper

NM_001360016.2

p.E170Q

c.508G>C

1 paper

NM_001360016.2

p.G163G

c.489C>T

1 paper

NM_001360016.2

p.G163G

c.489C>G