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.Y197F

c.590A>T

Surrounding Variants

1 paper

NM_001360016.2

p.Y197S

c.590A>C

1 paper

NM_001360016.2

p.Y197Y

c.591C>T

127 papers

NM_001360016.2

p.R198C

c.592C>T

NM_000402.4

p.R228C

c.682C>T

1 paper

NM_001360016.2

p.I196I

c.588C>T

2 papers

NM_001360016.2

p.R198G

c.592C>G

12 papers

NM_001360016.2

p.R198S

c.592C>A

1 paper

NM_001360016.2

p.Y197_R198Fs

c.589_592delinsCTCCAFs

1 paper

NM_001360016.2

p.I196T

c.587T>C

1 paper

NM_001360016.2

p.R198L

c.593G>T

13 papers

NM_001360016.2

p.R198P

c.593G>C

16 papers

NM_001360016.2

p.R198H

c.593G>A

1 paper

NM_001360016.2

p.R198R

c.594C>T