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

3 papers

NM_001360016.2

p.E63D

c.189A>T

Surrounding Variants

1 paper

NM_001360016.2

p.E63V

c.188A>T

9 papers

NM_001360016.2

p.E63K

c.187G>A

1 paper

NM_001360016.2

p.N64S

c.191A>G

1 paper

NM_001360016.2

p.P62P

c.186C>T

1 paper

NM_001360016.2

p.N64_T65insFs

c.192_193insG

8 papers

NM_001360016.2

p.P62L

c.185C>T

7 papers

NM_001360016.2

p.P62H

c.185C>A

4 papers

NM_001360016.2

p.L61del1

c.181_182delCAG

9 papers

NM_001360016.2

p.T65A

c.193A>G

2 papers

NM_001360016.2

p.T65I

c.194C>T

1 paper

NM_001360016.2

p.T65N

c.194C>A

1 paper

NM_001360016.2

p.T65delFs

c.193delT