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.L55P

c.164T>C

Surrounding Variants

1 paper

NM_001360016.2

p.L55Q

c.164T>A

1 paper

NM_001360016.2

p.L55delFs

c.163delG

3 papers

NM_001360016.2

p.L55L

c.163C>T

1 paper

NM_001360016.2

p.L55M

c.163C>A

1 paper

NM_000402.4

p.W84delFs

c.252delC

1 paper

NM_001360016.2

p.F56L

c.166T>C

1 paper

NM_001360016.2

p.L55delFs

c.165delC

1 paper

NM_001360016.2

p.F56S

c.167T>C

1 paper

NM_000402.4

p.W84_L85insC

c.250_254ins3

1 paper

NM_001360016.2

p.F56F

c.168C>T

2 papers

NM_000402.4

p.F86L

c.258C>G

NM_001360016.2

p.F56L

c.168C>G

1 paper

NM_001360016.2

p.F56L

c.168C>A