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.E244insFs

c.730dupG

Surrounding Variants

2 papers

NM_001360016.2

p.G242_T243del0

c.724_729del6

1 paper

NM_001360016.2

p.E244*

c.730G>T

5 papers

NM_000402.4

p.E274K

c.820G>A

NM_001360016.2

p.E244K

c.730G>A

1 paper

NM_001360016.2

p.E244E

c.732G>A

1 paper

NM_001360016.2

p.T243del1

c.727_728delAGT

1 paper

NM_001360016.2

p.G245S

c.733G>A

1 paper

NM_001360016.2

p.G245D

c.734G>A

3 papers

NM_001360016.2

p.T243S

c.728C>G

1 paper

NM_001360016.2

p.G245G

c.735T>C

3 papers

NM_001360016.2

p.T243S

c.727A>T

1 paper

NM_001360016.2

p.F241_G242del1

c.723_725delCCA

4 papers

NM_001360016.2

p.R246L

c.737G>T