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.E206K

c.616G>A

Surrounding Variants

1 paper

NM_001360016.2

p.K205N

c.615G>T

1 paper

NM_001360016.2

p.K205N

c.615G>C

1 paper

NM_001360016.2

p.K205K

c.615G>A

1 paper

NM_001360016.2

p.E206E

c.618G>A

1 paper

NM_001360016.2

p.K205M

c.614A>T

4 papers

NM_001360016.2

p.K205R

c.614A>G

2 papers

NM_001360016.2

p.K205T

c.614A>C

1 paper

NM_001360016.2

p.M207L

c.619A>T

1 paper

NM_001360016.2

p.K205E

c.613A>G

1 paper

NM_001360016.2

p.M207L

c.619A>C

1 paper

NM_001360016.2

p.K205Q

c.613A>C

9 papers

NM_001360016.2

p.M207T

c.620T>C