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.K275M

c.824A>T

Surrounding Variants

7 papers

NM_001360016.2

p.K275N

c.825G>T

15 papers

NM_001360016.2

p.K275N

c.825G>C

1 paper

NM_001360016.2

p.E274E

c.822G>A

8 papers

NM_001360016.2

p.P276S

c.826C>T

7 papers

NM_001360016.2

p.P276L

c.827C>T

5 papers

NM_001360016.2

p.E274V

c.821A>T

1 paper

NM_000402.4

p.E304*

c.910G>T

12 papers

NM_001360016.2

p.E274K

c.820G>A

1 paper

NM_001360016.2

p.P276P

c.828C>T

1 paper

NM_001360016.2

p.P276P

c.828C>G

1 paper

NM_001360016.2

p.A277S

c.829G>T

2 papers

NM_001360016.2

p.A277T

c.829G>A