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.L469V

c.1405C>G

Surrounding Variants

1 paper

NM_001360016.2

p.L469delins

c.1405delinsCCACACAGGC

1 paper

NM_001360016.2

p.L468L

c.1404G>T

7 papers

NM_001360016.2

p.P467R

c.1400C>G

2 papers

NM_001360016.2

p.P467S

c.1399C>T

1 paper

NM_001360016.2

p.Q471*

c.1411C>T

3 papers

NM_001360016.2

p.T466T

c.1398C>T

1 paper

NM_001360016.2

p.T466T

c.1398C>G

1 paper

NM_001360016.2

p.T466T

c.1398C>A

1 paper

NM_001360016.2

p.Q471R

c.1412A>G

1 paper

NM_001360016.2

p.Q471Q

c.1413G>A

1 paper

NM_001360016.2

p.T466A

c.1396A>G

6 papers

NM_001360016.2

p.I472L

c.1414A>C