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.Y70Y

c.210T>C

Surrounding Variants

8 papers

NM_001360016.2

p.A71T

c.211G>A

1 paper

NM_001360016.2

p.Y70del1

c.208_210delATA

16 papers

NM_001360016.2

p.Y70C

c.209A>G

14 papers

NM_001360016.2

p.Y70H

c.208T>C

2 papers

NM_001360016.2

p.A71insFs

c.212_213insG

1 paper

NM_001360016.2

p.G69G

c.207C>T

1 paper

NM_001360016.2

p.G69D

c.206G>A

1 paper

NM_001360016.2

p.R72H

c.215G>A

1 paper

NM_001360016.2

p.G69S

c.205G>A

1 paper

NM_001360016.2

p.I67_V68delFs

c.200_204del5

1 paper

NM_001360016.2

p.R72_S73insFs

c.216_217insA

1 paper

NM_001360016.2

p.R72R

c.216T>C