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.R330_S332del0

c.989_994del6

Surrounding Variants

8 papers

NM_001360016.2

p.S332F

c.995C>T

1 paper

NM_001360016.2

p.S332Y

c.995C>A

1 paper

NM_001360016.2

p.S332P

c.994T>C

3 papers

NM_001360016.2

p.S332S

c.996C>T

1 paper

NM_001360016.2

p.T333A

c.997A>G

1 paper

NM_001360016.2

p.T333P

c.997A>C

1 paper

NM_001360016.2

p.T333I

c.998C>T

1 paper

NM_001360016.2

p.G331W

c.991G>T

1 paper

NM_001360016.2

p.G331R

c.991G>C

2 papers

NM_000402.4

p.G361R

c.1081G>A

NM_001360016.2

p.G331R

c.991G>A

1 paper

NM_000402.4

p.T363T

c.1089C>A

1 paper

NM_001360016.2

p.R330R

c.990C>T