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.D313V

c.938A>T

Surrounding Variants

1 paper

NM_000402.4

p.D343A

c.1028A>C

1 paper

NM_001360016.2

p.D313D

c.939T>C

1 paper

NM_001360016.2

p.P312insFs

c.936dupC

1 paper

NM_001360016.2

p.D313H

c.937G>C

2 papers

NM_001360016.2

p.D313N

c.937G>A

1 paper

NM_001360016.2

p.P312P

c.936C>T

8 papers

NM_000402.4

p.P342S

c.1024C>T

1 paper

NM_001360016.2

p.E315K

c.943G>A

1 paper

NM_001360016.2

p.E315G

c.944A>G

1 paper

NM_001360016.2

p.E315D

c.945G>T

1 paper

NM_001360016.2

p.E315D

c.945G>C

1 paper

NM_001360016.2

p.G310G

c.930G>C