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

15 papers

NM_001360016.2

p.Y112F

c.335A>T

Surrounding Variants

2 papers

NM_001360016.2

p.Y112Y

c.336C>T

1 paper

NM_001360016.2

p.D113Y

c.337G>T

21 papers

NM_001360016.2

p.D113N

c.337G>A

1 paper

NM_001360016.2

p.Q111Q

c.333G>A

2 papers

NM_001360016.2

p.D113G

c.338A>G

2 papers

NM_001360016.2

p.Q111R

c.332A>G

1 paper

NM_001360016.2

p.Q111*

c.331C>T

1 paper

NM_001360016.2

p.Q111E

c.331C>G

2 papers

NM_001360016.2

p.G110V

c.329G>T

1 paper

NM_001360016.2

p.D114G

c.341A>G

1 paper

NM_001360016.2

p.A109A

c.327T>A

1 paper

NM_001360016.2

p.A115V

c.344C>T