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

5 papers

NM_000402.4

p.N135T

c.404A>C

NM_001360016.2

p.N105T

c.314A>C

Surrounding Variants

3 papers

NM_001360016.2

p.N105S

c.314A>G

1 paper

NM_001360016.2

p.N105N

c.315C>T

1 paper

NM_001360016.2

p.E94_R104del11

c.280_311del33

1 paper

NM_001360016.2

p.A103_N105del3

c.307_314del9

2 papers

NM_001360016.2

p.R104R

c.312C>T

1 paper

NM_001360016.2

p.R104fs

c.310_311fs

1 paper

NM_001360016.2

p.R104P

c.311G>C

15 papers

NM_001360016.2

p.R104H

c.311G>A

1 paper

NM_001360016.2

p.R104delFs

c.310delG

2 papers

NM_001360016.2

p.S106F

c.317C>T

11 papers

NM_001360016.2

p.S106C

c.317C>G

1 paper

NM_001360016.2

p.S106insFs

c.316dupT