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.S84G

c.250A>G

Surrounding Variants

1 paper

NM_001360016.2

p.S84R

c.250A>C

1 paper

NM_001360016.2

p.S84_E85insC

c.250_254ins3

1 paper

NM_001360016.2

p.Q83delFs

c.249delC

1 paper

NM_001360016.2

p.Q83H

c.249G>T

1 paper

NM_001360016.2

p.Q83H

c.249G>C

2 papers

NM_001360016.2

p.S84N

c.251G>A

1 paper

NM_001360016.2

p.S84R

c.252T>G

1 paper

NM_001360016.2

p.S84S

c.252T>C

1 paper

NM_001360016.2

p.S84R

c.252T>A

1 paper

NM_001360016.2

p.Q83E

c.247C>G

1 paper

NM_001360016.2

p.E85G

c.254A>G

1 paper

NM_001360016.2

p.K82K

c.246A>G