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_000402.4

p.G234C

c.700G>T

NM_001360016.2

p.G204C

c.610G>T

Surrounding Variants

1 paper

NM_001360016.2

p.G204R

c.610G>C

1 paper

NM_001360016.2

p.G204S

c.610G>A

1 paper

NM_001360016.2

p.G204V

c.611G>T

1 paper

NM_001360016.2

p.L203L

c.609G>T

1 paper

NM_001360016.2

p.G204A

c.611G>C

1 paper

NM_001360016.2

p.L203L

c.609G>C

3 papers

NM_001360016.2

p.G204D

c.611G>A

1 paper

NM_001360016.2

p.L203R

c.608T>G

1 paper

NM_001360016.2

p.L203P

c.608T>C

1 paper

NM_001360016.2

p.L203Q

c.608T>A

1 paper

NM_001360016.2

p.Y202_L203delFs

c.606_607delGG

1 paper

NM_001360016.2

p.G204G

c.612C>T