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

7 papers

NM_001360016.2

p.R182W

c.544C>T

Surrounding Variants

1 paper

NM_001360016.2

p.R182G

c.544C>G

1 paper

NM_001360016.2

p.R182P

c.545G>C

6 papers

NM_001360016.2

p.R182Q

c.545G>A

1 paper

NM_000402.4

p.D211D

c.633C>T

1 paper

NM_001360016.2

p.R182R

c.546G>A

74 papers

NM_001360016.2

p.D181V

c.542A>T

NM_000402.4

p.D211V

c.632A>T

1 paper

NM_001360016.2

p.D181A

c.542A>C

1 paper

NM_001360016.2

p.D181Y

c.541G>T

1 paper

NM_001360016.2

p.D181N

c.541G>A

1 paper

NM_001360016.2

p.L183L

c.547C>T

3 papers

NM_001360016.2

p.S180_R182del3

c.538_545del9

1 paper

NM_001360016.2

p.L183P

c.548T>C