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

7 papers

NM_001360016.2

p.F66C

c.197T>G

Surrounding Variants

9 papers

NM_000402.4

p.F96Y

c.287T>A

NM_001360016.2

p.F66Y

c.197T>A

1 paper

NM_001360016.2

p.F66L

c.196T>C

28 papers

NM_001360016.2

p.F66I

c.196T>A

1 paper

NM_001360016.2

p.F66L

c.198C>G

1 paper

NM_001360016.2

p.F66L

c.198C>A

1 paper

NM_001360016.2

p.I67insFs

c.199dupA

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

2 papers

NM_001360016.2

p.I67I

c.201C>T

1 paper

NM_001360016.2

p.I67fs

c.199_200fs

9 papers

NM_001360016.2

p.T65A

c.193A>G