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.K238Q

c.712A>C

Surrounding Variants

1 paper

NM_001360016.2

p.F237_K238insFs

c.711_712insGG

18 papers

NM_001360016.2

p.K238R

c.713A>G

3 papers

NM_001360016.2

p.F237S

c.710T>C

1 paper

NM_001360016.2

p.K238K

c.714G>A

1 paper

NM_001360016.2

p.K238del1

c.712_713delCTT

1 paper

NM_000402.4

p.T266_K268del3

c.796_803del9

2 papers

NM_001360016.2

p.T236T

c.708C>T

1 paper

NM_001360016.2

p.E239E

c.717G>A

1 paper

NM_000402.4

p.T266A

c.796A>G

1 paper

NM_001360016.2

p.L235L

c.705C>T

1 paper

NM_001360016.2

p.T236_P240Fs

c.706_719delinsGFs

1 paper

NM_000402.4

p.I264insFs

c.792dupC