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.D456_E457del1

c.1367_1369delCGT

Surrounding Variants

1 paper

NM_001360016.2

p.L458F

c.1372C>T

4 papers

NM_001360016.2

p.R459G

c.1375C>G

1 paper

NM_001360016.2

p.R459S

c.1375C>A

5 papers

NM_001360016.2

p.D456V

c.1367A>T

269 papers

NM_001360016.2

p.R459L

c.1376G>T

NM_000402.4

p.R489L

c.1466G>T

28 papers

NM_001360016.2

p.R459P

c.1376G>C

5 papers

NM_001360016.2

p.D456H

c.1366G>C

11 papers

NM_001360016.2

p.R459H

c.1376G>A

1 paper

NM_001360016.2

p.D456N

c.1366G>A

1 paper

NM_001360016.2

p.S455R

c.1365C>G

1 paper

NM_001360016.2

p.S455R

c.1365C>A

1 paper

NM_001360016.2

p.S455R

c.1363A>C