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_000402.4

p.S70P

c.208T>C

Surrounding Variants

3 papers

NM_001360016.2

p.S40L

c.119C>T

1 paper

NM_001360016.2

p.S40*

c.119C>A

1 paper

NM_001360016.2

p.S40S

c.120G>A

1 paper

NM_001360016.2

p.A39E

c.116C>A

1 paper

NM_001360016.2

p.A39S

c.115G>T

1 paper

NM_001360016.2

p.S40_G41Splc

c.120+1G>A

1 paper

NM_001360016.2

p.G38A

c.113G>C

16 papers

NM_000402.4

p.G68S

c.202G>A

1 paper

NM_001360016.2

p.M37I

c.111G>T

1 paper

NM_001360016.2

p.M37I

c.111G>C

1 paper

NM_001360016.2

p.M37I

c.111G>A

2 papers

NM_001360016.2

p.I35del1

c.103_104delGAT