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.A231T

c.691G>A

Surrounding Variants

6 papers

NM_001360016.2

p.A231P

c.691G>C

3 papers

NM_001360016.2

p.I230I

c.690C>T

1 paper

NM_001360016.2

p.I230I

c.690C>A

3 papers

NM_001360016.2

p.D228_N229del1

c.683_685delTGT

1 paper

NM_001360016.2

p.A231A

c.693C>A

1 paper

NM_001360016.2

p.I230V

c.688A>G

6 papers

NM_001360016.2

p.C232Y

c.695G>A

1 paper

NM_001360016.2

p.N229N

c.687C>T

1 paper

NM_001360016.2

p.C232C

c.696C>T

6 papers

NM_001360016.2

p.V233L

c.697G>C

4 papers

NM_001360016.2

p.V233I

c.697G>A

1 paper

NM_001360016.2

p.V233insFs

c.698_699ins4