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

3 papers

NM_001360016.2

p.D194N

c.580G>A

Surrounding Variants

1 paper

NM_001360016.2

p.E193E

c.579G>A

9 papers

NM_001360016.2

p.D194E

c.582C>G

7 papers

NM_001360016.2

p.D194E

c.582C>A

1 paper

NM_001360016.2

p.E193del1

c.577_578delCTC

5 papers

NM_001360016.2

p.E193K

c.577G>A

1 paper

NM_001360016.2

p.Q195R

c.584A>G

4 papers

NM_001360016.2

p.Q195H

c.585G>T

1 paper

NM_001360016.2

p.R192L

c.575G>T

6 papers

NM_001360016.2

p.Q195H

c.585G>C

5 papers

NM_001360016.2

p.R192H

c.575G>A

4 papers

NM_001360016.2

p.R192C

c.574C>T

1 paper

NM_001360016.2

p.R192_E193insG

c.574_578ins3