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

2 papers

NM_000402.4

p.L207P

c.620T>C

Surrounding Variants

1 paper

NM_001360016.2

p.L177Q

c.530T>A

1 paper

NM_001360016.2

p.L177L

c.529C>T

1 paper

NM_001360016.2

p.Q178L

c.533A>T

9 papers

NM_001360016.2

p.D176G

c.527A>G

1 paper

NM_001360016.2

p.D176A

c.527A>C

1 paper

NM_001360016.2

p.D176insFs

c.526dupG

1 paper

NM_001360016.2

p.V169_R175del7

c.505_524del21

6 papers

NM_001360016.2

p.S179C

c.535A>T

9 papers

NM_001360016.2

p.S179N

c.536G>A

3 papers

NM_001360016.2

p.R175K

c.524G>A

1 paper

NM_001360016.2

p.S179S

c.537C>T

1 paper

NM_001360016.2

p.S179delFs

c.535_536delCT