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.K46insFs

c.137_138insT

Surrounding Variants

1 paper

NM_001360016.2

p.K46R

c.137A>G

1 paper

NM_001360016.2

p.K46K

c.138G>A

1 paper

NM_001360016.2

p.K46delins

c.136_138delinsTAA

1 paper

NM_000402.4

p.K76Q

c.226A>C

2 papers

NM_001360016.2

p.K45K

c.135G>A

1 paper

NM_001360016.2

p.K46delFs

c.138delC

1 paper

NM_001360016.2

p.K47N

c.141G>T

1 paper

NM_001360016.2

p.K47_I48insFs

c.141_142insC

2 papers

NM_001360016.2

p.K47N

c.141G>C

1 paper

NM_000402.4

p.K77delFs

c.229delT

1 paper

NM_001360016.2

p.K45E

c.133A>G

1 paper

NM_001360016.2

p.K45insFs

c.133_134insT