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

3 papers

NM_001360016.2

p.H124Y

c.370C>T

Surrounding Variants

1 paper

NM_001360016.2

p.S123R

c.369C>G

1 paper

NM_001360016.2

p.S123delFs

c.368delC

4 papers

NM_001360016.2

p.H124R

c.371A>G

1 paper

NM_001360016.2

p.S123N

c.368G>A

1 paper

NM_001360016.2

p.N122K

c.366C>G

1 paper

NM_001360016.2

p.N122K

c.366C>A

1 paper

NM_000402.4

p.N152delFs

c.454delT

8 papers

NM_001360016.2

p.M125I

c.375G>T

7 papers

NM_001360016.2

p.M125I

c.375G>C

7 papers

NM_001360016.2

p.M125I

c.375G>A

4 papers

NM_001360016.2

p.N122I

c.365A>T

2 papers

NM_001360016.2

p.N122S

c.365A>G