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

2 papers

NM_001360016.2

p.G14A

c.41G>C

Surrounding Variants

1 paper

NM_001360016.2

p.G14V

c.41G>T

1 paper

NM_000402.4

p.G44W

c.130G>T

3 papers

NM_001360016.2

p.G14R

c.40G>C

6 papers

NM_001360016.2

p.G14R

c.40G>A

NM_000402.4

p.G44R

c.130G>A

1 paper

NM_000402.4

p.R39_C43insFs

c.117_127dup11

1 paper

NM_000402.4

p.I45_L46insG

c.133_137ins3

1 paper

NM_001360016.2

p.C13Y

c.38G>A

1 paper

NM_001360016.2

p.C13delFs

c.37delA

1 paper

NM_001360016.2

p.I15I

c.45C>T

1 paper

NM_001360016.2

p.I15_L16insFs

c.45_46insG

1 paper

NM_001360016.2

p.I15fs

c.43_44fs

1 paper

NM_001360016.2

p.V12V

c.36G>T