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.I256V

c.766A>G

Surrounding Variants

1 paper

NM_001360016.2

p.I256M

c.768C>G

4 papers

NM_001360016.2

p.R257G

c.769C>G

4 papers

NM_001360016.2

p.R257R

c.769C>A

1 paper

NM_001360016.2

p.I255V

c.763A>G

9 papers

NM_001360016.2

p.R257L

c.770G>T

1 paper

NM_001360016.2

p.R257Q

c.770G>A

1 paper

NM_001360016.2

p.G254A

c.761G>C

1 paper

NM_001360016.2

p.R257Splc

c.770+2T>C

1 paper

NM_001360016.2

p.F253L

c.759T>G

1 paper

NM_001360016.2

p.F253L

c.759T>A

1 paper

NM_001360016.2

p.D251_E252delFs

c.753_756del4

1 paper

NM_001360016.2

p.F253L

c.757T>C