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.A272A

c.816C>T

Surrounding Variants

1 paper

NM_001360016.2

p.A272V

c.815C>T

1 paper

NM_001360016.2

p.M273R

c.818T>G

1 paper

NM_001360016.2

p.A272S

c.814G>T

1 paper

NM_001360016.2

p.V271V

c.813G>A

1 paper

NM_000402.4

p.E304*

c.910G>T

12 papers

NM_001360016.2

p.E274K

c.820G>A

3 papers

NM_001360016.2

p.V271L

c.811G>T

6 papers

NM_001360016.2

p.V271L

c.811G>C

5 papers

NM_001360016.2

p.E274V

c.821A>T

1 paper

NM_001360016.2

p.E274E

c.822G>A

1 paper

NM_001360016.2

p.L270L

c.810G>A

1 paper

NM_001360016.2

p.L270L

c.808C>T