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

1–12 of 1775 variants

346 papers

NM_001360016.2

p.V68M

c.202G>A

337 papers

NM_001360016.2

p.S188F

c.563C>T

307 papers

NM_001360016.2

p.N126D

c.376A>G

266 papers

NM_001360016.2

p.R459L

c.1376G>T

248 papers

NM_001360016.2

p.R463H

c.1388G>A

238 papers

NM_001360016.2

p.V291M

c.871G>A

192 papers

NM_001360016.2

p.G163S

c.487G>A

173 papers

NM_001360016.2

p.R454C

c.1360C>T

151 papers

NM_001360016.2

p.H32R

c.95A>G

148 papers

NM_001360016.2

p.L342F

c.1024C>T

133 papers

NM_001360016.2

p.G131V

c.392G>T

126 papers

NM_001360016.2

p.R198C

c.592C>T