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.D283V

c.848A>T

Surrounding Variants

6 papers

NM_001360016.2

p.D283G

c.848A>G

1 paper

NM_001360016.2

p.D283N

c.847G>A

1 paper

NM_001360016.2

p.D283D

c.849C>T

2 papers

NM_001360016.2

p.D283E

c.849C>G

4 papers

NM_001360016.2

p.D283E

c.849C>A

1 paper

NM_000402.4

p.V314L

c.940G>C

1 paper

NM_001360016.2

p.V284I

c.850G>A

2 papers

NM_001360016.2

p.S281_D283del3

c.841_848del9

6 papers

NM_001360016.2

p.V284A

c.851T>C

2 papers

NM_001360016.2

p.D282G

c.845A>G

8 papers

NM_001360016.2

p.D282Y

c.844G>T

72 papers

NM_001360016.2

p.D282H

c.844G>C

NM_000402.4

p.D312H

c.934G>C