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.Q471R

c.1412A>G

Surrounding Variants

1 paper

NM_001360016.2

p.Q471Q

c.1413G>A

1 paper

NM_001360016.2

p.Q471*

c.1411C>T

6 papers

NM_001360016.2

p.I472L

c.1414A>C

1 paper

NM_001360016.2

p.I472M

c.1416T>G

1 paper

NM_000402.4

p.H500_I502del3

c.1498_1505del9

1 paper

NM_001360016.2

p.L469delins

c.1405delinsCCACACAGGC

1 paper

NM_001360016.2

p.E473E

c.1419G>A

1 paper

NM_001360016.2

p.L469V

c.1405C>G

1 paper

NM_001360016.2

p.L468L

c.1404G>T

1 paper

NM_001360016.2

p.L474Q

c.1421T>A

1 paper

NM_001360016.2

p.L474L

c.1422G>A

7 papers

NM_001360016.2

p.P467R

c.1400C>G