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.Q11insFs

c.33dupG

Surrounding Variants

1 paper

NM_001360016.2

p.V12G

c.35T>G

3 papers

NM_001360016.2

p.V12L

c.34G>T

1 paper

NM_001360016.2

p.V12V

c.36G>T

3 papers

NM_001360016.2

p.V12L

c.34G>C

2 papers

NM_001360016.2

p.V12M

c.34G>A

4 papers

NM_001360016.2

p.Q11H

c.33G>T

4 papers

NM_001360016.2

p.Q11H

c.33G>C

1 paper

NM_001360016.2

p.C13Y

c.38G>A

1 paper

NM_001360016.2

p.C13delFs

c.37delA

2 papers

NM_001360016.2

p.Q11R

c.32A>G

2 papers

NM_001360016.2

p.Q11*

c.31C>T

1 paper

NM_000402.4

p.R39_C43insFs

c.117_127dup11