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.I35F

c.103A>T

Surrounding Variants

1 paper

NM_001360016.2

p.I35V

c.103A>G

1 paper

NM_001360016.2

p.I35insFs

c.103_104insA

2 papers

NM_001360016.2

p.I35T

c.104T>C

1 paper

NM_001360016.2

p.I33_I35Fs

c.98_104delinsTCCFs

2 papers

NM_001360016.2

p.F34L

c.102C>G

2 papers

NM_001360016.2

p.F34L

c.102C>A

2 papers

NM_001360016.2

p.F34L

c.100T>C

1 paper

NM_001360016.2

p.I35Fs

c.104delinsTCCFs

1 paper

NM_000402.4

p.I66S

c.197T>G

2 papers

NM_001360016.2

p.I36T

c.107T>C

1 paper

NM_000402.4

p.I66N

c.197T>A

1 paper

NM_001360016.2

p.H32_I35delFs

c.94_104del11