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.S278S

c.834C>T

Surrounding Variants

10 papers

NM_001360016.2

p.S278F

c.833C>T

27 papers

NM_001360016.2

p.T279S

c.835A>T

15 papers

NM_001360016.2

p.T279A

c.835A>G

1 paper

NM_001360016.2

p.S278ins1

c.832_833insAAT

8 papers

NM_001360016.2

p.S278P

c.832T>C

1 paper

NM_001360016.2

p.T279I

c.836C>T

6 papers

NM_001360016.2

p.T279S

c.836C>G

1 paper

NM_001360016.2

p.A277A

c.831C>A

1 paper

NM_001360016.2

p.A277D

c.830C>A

1 paper

NM_001360016.2

p.A277_T279del3

c.829_836del9

1 paper

NM_001360016.2

p.A277S

c.829G>T

2 papers

NM_001360016.2

p.A277T

c.829G>A