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

18 papers

NM_001360016.2

p.E156K

c.466G>A

NM_000402.4

p.E186K

c.556G>A

Surrounding Variants

1 paper

NM_001360016.2

p.H155H

c.465C>T

1 paper

NM_001360016.2

p.H155Q

c.465C>G

1 paper

NM_001360016.2

p.H155Q

c.465C>A

1 paper

NM_001360016.2

p.H155insFs

c.464_465ins4

1 paper

NM_001360016.2

p.H155Y

c.463C>T

9 papers

NM_001360016.2

p.H155D

c.463C>G

2 papers

NM_001360016.2

p.H155N

c.463C>A

3 papers

NM_001360016.2

p.S157F

c.470C>T

2 papers

NM_001360016.2

p.C158G

c.472T>G

1 paper

NM_001360016.2

p.I154F

c.460A>T

1 paper

NM_001360016.2

p.I154V

c.460A>G

10 papers

NM_001360016.2

p.C158Y

c.473G>A