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.V5G

c.14T>G

Surrounding Variants

1 paper

NM_001360016.2

p.V5E

c.14T>A

1 paper

NM_001360016.2

p.A6S

c.16G>T

1 paper

NM_001360016.2

p.Q4H

c.12G>C

1 paper

NM_001360016.2

p.A6V

c.17C>T

2 papers

NM_001360016.2

p.Q4R

c.11A>G

1 paper

NM_001360016.2

p.A6A

c.18C>T

1 paper

NM_001360016.2

p.Q4*

c.10C>T

1 paper

NM_001360016.2

p.E3_Q4insFs

c.9_10insG

1 paper

NM_001360016.2

p.M1_E3delFs

c.2_9del8

1 paper

NM_001360016.2

p.E3D

c.9G>T

1 paper

NM_001360016.2

p.E3E

c.9G>A

1 paper

NM_001360016.2

p.L7M

c.19C>A