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_001360016.2

p.H27R

c.80A>G

Surrounding Variants

2 papers

NM_001360016.2

p.H27Y

c.79C>T

NM_000402.4

p.H57Y

c.169C>T

1 paper

NM_001360016.2

p.H27D

c.79C>G

1 paper

NM_001360016.2

p.F26F

c.78C>T

1 paper

NM_001360016.2

p.F26L

c.78C>G

1 paper

NM_001360016.2

p.F26L

c.78C>A

1 paper

NM_001360016.2

p.Q28L

c.83A>T

1 paper

NM_001360016.2

p.Q28R

c.83A>G

1 paper

NM_001360016.2

p.F26L

c.76T>C

1 paper

NM_001360016.2

p.F26I

c.76T>A

1 paper

NM_001360016.2

p.G23_A25delFs

c.68_75del8

1 paper

NM_001360016.2

p.Q28H

c.84G>T

1 paper

NM_001360016.2

p.Q28_S29insFs

c.84_85insC