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.K97Q

c.289A>C

Surrounding Variants

1 paper

NM_001360016.2

p.K97E

c.289A>G

4 papers

NM_001360016.2

p.K97M

c.290A>T

3 papers

NM_001360016.2

p.K97R

c.290A>G

2 papers

NM_001360016.2

p.K97T

c.290A>C

2 papers

NM_001360016.2

p.L96P

c.287T>C

NM_000402.4

p.L126P

c.377T>C

2 papers

NM_001360016.2

p.K97N

c.291G>C

3 papers

NM_001360016.2

p.K97K

c.291G>A

1 paper

NM_001360016.2

p.L98V

c.292C>G

3 papers

NM_001360016.2

p.E94_K95del1

c.281_283delTCT

1 paper

NM_000402.4

p.L128insFs

c.382dupC

3 papers

NM_000402.4

p.L128P

c.383T>C

1 paper

NM_001360016.2

p.L98Q

c.293T>A