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_000402.4

p.N376_E377delFs

c.1127_1131del5

Surrounding Variants

1 paper

NM_001360016.2

p.R348R

c.1042A>C

1 paper

NM_001360016.2

p.W349R

c.1045T>C

1 paper

NM_001360016.2

p.W349R

c.1045T>A

1 paper

NM_000402.4

p.W379insFs

c.1135dupT

3 papers

NM_001360016.2

p.E347A

c.1040A>C

6 papers

NM_001360016.2

p.E347K

c.1039G>A

18 papers

NM_001360016.2

p.D350H

c.1048G>C

3 papers

NM_001360016.2

p.D350N

c.1048G>A

3 papers

NM_001360016.2

p.N346I

c.1037A>T

1 paper

NM_000402.4

p.W379delFs

c.1136_1137delCC

1 paper

NM_001360016.2

p.E345delFs

c.1033_1034delTC

1 paper

NM_001360016.2

p.G351W

c.1051G>T