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_000402.4

p.F168F

c.504C>T

NM_001360016.2

p.F138F

c.414C>T

Surrounding Variants

1 paper

NM_000402.4

p.L167del1

c.499_500delGAG

2 papers

NM_001360016.2

p.Y139F

c.416A>T

1 paper

NM_001360016.2

p.Y139C

c.416A>G

1 paper

NM_001360016.2

p.L137L

c.411C>G

1 paper

NM_001360016.2

p.L137P

c.410T>C

1 paper

NM_001360016.2

p.L140L

c.418C>T

1 paper

NM_000402.4

p.L170P

c.509T>C

8 papers

NM_001360016.2

p.L137F

c.409C>T

1 paper

NM_001360016.2

p.L137V

c.409C>G

1 paper

NM_001360016.2

p.L137_F138insT

c.409_413ins3

1 paper

NM_001360016.2

p.R136R

c.408C>T

1 paper

NM_001360016.2

p.R136_L137insFs

c.408_409insA