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

2 papers

NM_001360016.2

p.F34L

c.100T>C

Surrounding Variants

4 papers

NM_001360016.2

p.I33M

c.99A>G

2 papers

NM_001360016.2

p.I33R

c.98T>G

3 papers

NM_001360016.2

p.I33T

c.98T>C

2 papers

NM_001360016.2

p.F34L

c.102C>G

2 papers

NM_001360016.2

p.F34L

c.102C>A

1 paper

NM_001360016.2

p.I35F

c.103A>T

2 papers

NM_001360016.2

p.I33V

c.97A>G

1 paper

NM_001360016.2

p.I35V

c.103A>G

1 paper

NM_001360016.2

p.I35insFs

c.103_104insA

2 papers

NM_001360016.2

p.I35T

c.104T>C

1 paper

NM_001360016.2

p.I33_I35Fs

c.98_104delinsTCCFs

151 papers

NM_001360016.2

p.H32R

c.95A>G

NM_000402.4

p.H62R

c.185A>G