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.I162R

c.485T>G

Surrounding Variants

1 paper

NM_001360016.2

p.Q161delFs

c.482_483delCT

1 paper

NM_000402.4

p.S190_I192delFs

c.570_574del5

1 paper

NM_001360016.2

p.I162L

c.484A>T

1 paper

NM_001360016.2

p.I162V

c.484A>G

1 paper

NM_001360016.2

p.Q161Q

c.483G>A

1 paper

NM_001360016.2

p.I162Splc

c.485+3A>G

1 paper

NM_001360016.2

p.Q161R

c.482A>G

1 paper

NM_000402.4

p.S190delFs

c.570delG

1 paper

NM_001360016.2

p.Q161*

c.481C>T

2 papers

NM_001360016.2

p.S160N

c.479G>A

1 paper

NM_000402.4

p.M189del1

c.565_567delCAT

1 paper

NM_001360016.2

p.I162Splc

c.485+7C>G