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

7 papers

NM_001360016.2

p.R9W

c.25C>T

Surrounding Variants

1 paper

NM_001360016.2

p.R9L

c.26G>T

1 paper

NM_001360016.2

p.R9delins

c.26delinsC

5 papers

NM_000402.4

p.R39Q

c.116G>A

NM_001360016.2

p.R9Q

c.26G>A

1 paper

NM_001360016.2

p.S8S

c.24C>T

1 paper

NM_001360016.2

p.S8I

c.23G>T

2 papers

NM_001360016.2

p.S8N

c.23G>A

2 papers

NM_001360016.2

p.R9insFs

c.27dupG

1 paper

NM_001360016.2

p.A2_R9del8

c.4_26del24

1 paper

NM_001360016.2

p.L7L

c.21G>C

4 papers

NM_001360016.2

p.L7L

c.21G>A

1 paper

NM_000402.4

p.T40I

c.119C>T

1 paper

NM_001360016.2

p.T10N

c.29C>A