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.Y343Y

c.1029T>C

Surrounding Variants

1 paper

NM_001360016.2

p.V344L

c.1030G>T

1 paper

NM_001360016.2

p.V344L

c.1030G>C

2 papers

NM_001360016.2

p.V344M

c.1030G>A

2 papers

NM_001360016.2

p.Y343C

c.1028A>G

1 paper

NM_001360016.2

p.Y343S

c.1028A>C

2 papers

NM_001360016.2

p.V344A

c.1031T>C

1 paper

NM_001360016.2

p.Y343H

c.1027T>C

1 paper

NM_000402.4

p.L372delFs

c.1116delG

2 papers

NM_001360016.2

p.L342L

c.1026C>T

150 papers

NM_001360016.2

p.L342F

c.1024C>T

NM_000402.4

p.L372F

c.1114C>T

4 papers

NM_001360016.2

p.V341V

c.1023C>T

1 paper

NM_000402.4

p.V370insFs

c.1110dupC