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

4 papers

NM_001360016.2

p.V453E

c.1358T>A

Surrounding Variants

2 papers

NM_001360016.2

p.V453M

c.1357G>A

1 paper

NM_001360016.2

p.V453V

c.1359G>A

173 papers

NM_001360016.2

p.R454C

c.1360C>T

1 paper

NM_001360016.2

p.R454G

c.1360C>G

1 paper

NM_001360016.2

p.R454L

c.1361G>T

2 papers

NM_001360016.2

p.R454P

c.1361G>C

22 papers

NM_001360016.2

p.R454H

c.1361G>A

1 paper

NM_001360016.2

p.S455R

c.1363A>C

2 papers

NM_001360016.2

p.H451Y

c.1351C>T

1 paper

NM_000402.4

p.H481D

c.1441C>G

1 paper

NM_001360016.2

p.M450T

c.1349T>C

1 paper

NM_001360016.2

p.S455Splc

c.1364+3G>T