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.T91A

c.271A>G

Surrounding Variants

1 paper

NM_001360016.2

p.A90V

c.269C>T

2 papers

NM_001360016.2

p.A90P

c.268G>C

1 paper

NM_001360016.2

p.A90T

c.268G>A

8 papers

NM_001360016.2

p.P92S

c.274C>T

1 paper

NM_001360016.2

p.P92A

c.274C>G

3 papers

NM_001360016.2

p.E93K

c.277G>A

1 paper

NM_001360016.2

p.K89_A90Splc

c.268-4C>T

1 paper

NM_001360016.2

p.E93A

c.278A>C

1 paper

NM_001360016.2

p.E93D

c.279G>T

1 paper

NM_001360016.2

p.E93D

c.279G>C

1 paper

NM_001360016.2

p.K89_A90Splc

c.268-6T>C

1 paper

NM_001360016.2

p.E94A

c.281A>C