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

151 papers

NM_001360016.2

p.H32R

c.95A>G

NM_000402.4

p.H62R

c.185A>G

Surrounding Variants

1 paper

NM_001360016.2

p.H32delFs

c.94delG

1 paper

NM_001360016.2

p.T31_H32del1

c.92_94delGTG

2 papers

NM_000402.4

p.H62Y

c.184C>T

NM_001360016.2

p.H32Y

c.94C>T

6 papers

NM_001360016.2

p.H32D

c.94C>G

2 papers

NM_001360016.2

p.I33V

c.97A>G

2 papers

NM_001360016.2

p.I33R

c.98T>G

3 papers

NM_001360016.2

p.I33T

c.98T>C

2 papers

NM_001360016.2

p.T31I

c.92C>T

4 papers

NM_001360016.2

p.I33M

c.99A>G

2 papers

NM_001360016.2

p.F34L

c.100T>C

1 paper

NM_001360016.2

p.D30A

c.89A>C

2 papers

NM_001360016.2

p.D30Y

c.88G>T