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.N218N

c.654C>T

Surrounding Variants

1 paper

NM_001360016.2

p.N218_R219insFs

c.654_655insG

3 papers

NM_000402.4

p.R249G

c.745A>G

NM_001360016.2

p.R219G

c.655A>G

1 paper

NM_001360016.2

p.R219K

c.656G>A

1 paper

NM_001360016.2

p.A217_N218insFs

c.651_652insG

1 paper

NM_001360016.2

p.I220L

c.658A>C

13 papers

NM_001360016.2

p.F216L

c.648T>G

1 paper

NM_001360016.2

p.F216F

c.648T>C

9 papers

NM_001360016.2

p.F216L

c.648T>A

9 papers

NM_001360016.2

p.I220M

c.660C>G

2 papers

NM_001360016.2

p.F216_A217insA

c.646_650ins3

9 papers

NM_001360016.2

p.F216L

c.646T>C

1 paper

NM_001360016.2

p.F221F

c.663C>T