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.A141A

c.423C>T

Surrounding Variants

1 paper

NM_001360016.2

p.A141A

c.423C>G

1 paper

NM_001360016.2

p.A141A

c.423C>A

1 paper

NM_001360016.2

p.L142insFs

c.424_425insG

1 paper

NM_001360016.2

p.L142V

c.424T>G

1 paper

NM_000402.4

p.L172insFs

c.515_516insC

4 papers

NM_001360016.2

p.L142S

c.425T>C

1 paper

NM_000402.4

p.A171S

c.511G>T

1 paper

NM_001360016.2

p.A141_L142insC

c.421_425ins3

1 paper

NM_000402.4

p.L170P

c.509T>C

1 paper

NM_000402.4

p.P173S

c.517C>T

1 paper

NM_000402.4

p.L172delFs

c.516delC

1 paper

NM_001360016.2

p.L140L

c.418C>T