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.R17R

c.51G>A

Surrounding Variants

1 paper

NM_001360016.2

p.R17fs

c.49_50fs

1 paper

NM_000402.4

p.R47R

c.141G>C

2 papers

NM_001360016.2

p.R17L

c.50G>T

3 papers

NM_001360016.2

p.R17Q

c.50G>A

1 paper

NM_001360016.2

p.E18K

c.52G>A

1 paper

NM_001360016.2

p.R17delFs

c.49delG

4 papers

NM_001360016.2

p.R17W

c.49C>T

2 papers

NM_001360016.2

p.L16delFs

c.48delC

1 paper

NM_001360016.2

p.E18G

c.53A>G

1 paper

NM_001360016.2

p.E18A

c.53A>C

2 papers

NM_001360016.2

p.R17delFs

c.50delC

1 paper

NM_001360016.2

p.L16fs

c.46_47fs