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.I441T

c.1322T>C

Surrounding Variants

1 paper

NM_001360016.2

p.I441V

c.1321A>G

1 paper

NM_001360016.2

p.L442L

c.1324C>T

2 papers

NM_001360016.2

p.L442V

c.1324C>G

1 paper

NM_001360016.2

p.L442L

c.1326G>C

8 papers

NM_001360016.2

p.L440F

c.1318C>T

1 paper

NM_001360016.2

p.D443H

c.1327G>C

13 papers

NM_001360016.2

p.R439P

c.1316G>C

NM_000402.4

p.R469P

c.1406G>C

4 papers

NM_001360016.2

p.R439H

c.1316G>A

1 paper

NM_001360016.2

p.D443D

c.1329C>T

1 paper

NM_001360016.2

p.R439C

c.1315C>T

6 papers

NM_001360016.2

p.V444I

c.1330G>A

1 paper

NM_001360016.2

p.E438E

c.1314G>A