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.P329P

c.987C>A

Surrounding Variants

5 papers

NM_001360016.2

p.R330C

c.988C>T

1 paper

NM_001360016.2

p.P329L

c.986C>T

2 papers

NM_001360016.2

p.R330P

c.989G>C

8 papers

NM_001360016.2

p.R330H

c.989G>A

1 paper

NM_000402.4

p.R360delFs

c.1078delG

1 paper

NM_001360016.2

p.R330R

c.990C>T

1 paper

NM_001360016.2

p.G331W

c.991G>T

1 paper

NM_001360016.2

p.G331R

c.991G>C

2 papers

NM_000402.4

p.G361R

c.1081G>A

NM_001360016.2

p.G331R

c.991G>A

1 paper

NM_001360016.2

p.V328M

c.982G>A

1 paper

NM_001360016.2

p.T327T

c.981G>A

3 papers

NM_001360016.2

p.A318_P326del0

c.953_976del24