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

2 papers

NM_001360016.2

p.H186R

c.557A>G

Surrounding Variants

1 paper

NM_001360016.2

p.H186H

c.558C>T

1 paper

NM_001360016.2

p.H186D

c.556C>G

1 paper

NM_000402.4

p.H216_I217insA

c.646_650ins3

1 paper

NM_000402.4

p.L213_N215delFs

c.639_645del7

1 paper

NM_001360016.2

p.N185N

c.555C>T

1 paper

NM_001360016.2

p.N185K

c.555C>G

1 paper

NM_001360016.2

p.N185K

c.555C>A

3 papers

NM_001360016.2

p.I187V

c.559A>G

1 paper

NM_001360016.2

p.N185_I187Fs

c.554_559delinsTGTGFs

3 papers

NM_001360016.2

p.N185S

c.554A>G

1 paper

NM_001360016.2

p.N185D

c.553A>G

1 paper

NM_001360016.2

p.N185H

c.553A>C