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.D228A

c.683A>C

Surrounding Variants

5 papers

NM_001360016.2

p.D228N

c.682G>A

1 paper

NM_001360016.2

p.R227R

c.681G>T

1 paper

NM_001360016.2

p.R227R

c.681G>A

54 papers

NM_001360016.2

p.R227L

c.680G>T

NM_000402.4

p.R257L

c.770G>T

20 papers

NM_000402.4

p.R257Q

c.770G>A

NM_001360016.2

p.R227Q

c.680G>A

12 papers

NM_001360016.2

p.R227W

c.679C>T

1 paper

NM_001360016.2

p.N229N

c.687C>T

1 paper

NM_001360016.2

p.R227G

c.679C>G

1 paper

NM_001360016.2

p.N226N

c.678C>T

1 paper

NM_001360016.2

p.N226delFs

c.676delT

1 paper

NM_001360016.2

p.I230V

c.688A>G

3 papers

NM_001360016.2

p.D228_N229del1

c.683_685delTGT