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.L20I

c.58C>A

Surrounding Variants

1 paper

NM_001360016.2

p.E19A

c.56A>C

1 paper

NM_001360016.2

p.E19Q

c.55G>C

1 paper

NM_001360016.2

p.E19K

c.55G>A

1 paper

NM_001360016.2

p.E18fs

c.52_53fs

1 paper

NM_001360016.2

p.E18delFs

c.52_53delTC

1 paper

NM_001360016.2

p.I15_E18delFs

c.44_53del10

2 papers

NM_000402.4

p.F51delFs

c.151delA

NM_001360016.2

p.F21delFs

c.61delA

1 paper

NM_001360016.2

p.E18G

c.53A>G

1 paper

NM_001360016.2

p.E18A

c.53A>C

2 papers

NM_001360016.2

p.R17delFs

c.50delC

1 paper

NM_001360016.2

p.E18K

c.52G>A

1 paper

NM_000402.4

p.Q52*

c.154C>T