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.V303L

c.907G>T

Surrounding Variants

1 paper

NM_001360016.2

p.V303L

c.907G>C

4 papers

NM_001360016.2

p.V304F

c.910G>T

1 paper

NM_001360016.2

p.V304_L305insA

c.910_914ins3

3 papers

NM_001360016.2

p.N301K

c.903C>G

3 papers

NM_001360016.2

p.N301K

c.903C>A

1 paper

NM_001360016.2

p.V304V

c.912C>A

1 paper

NM_001360016.2

p.L305V

c.913C>G

1 paper

NM_001360016.2

p.V304delFs

c.912delG

1 paper

NM_001360016.2

p.A300A

c.900C>A

1 paper

NM_001360016.2

p.L305L

c.915G>T

1 paper

NM_001360016.2

p.L305L

c.915G>A

1 paper

NM_001360016.2

p.A300V

c.899C>T