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

23 papers

NM_001360016.2

p.A335V

c.1004C>T

Surrounding Variants

39 papers

NM_001360016.2

p.A335D

c.1004C>A

NM_000402.4

p.A365D

c.1094C>A

5 papers

NM_001360016.2

p.A335S

c.1003G>T

83 papers

NM_001360016.2

p.A335T

c.1003G>A

NM_000402.4

p.A365T

c.1093G>A

4 papers

NM_001360016.2

p.T334del1

c.1000_1001delGGT

1 paper

NM_001360016.2

p.A335A

c.1005C>T

1 paper

NM_001360016.2

p.A335A

c.1005C>G

1 paper

NM_001360016.2

p.A335A

c.1005C>A

2 papers

NM_001360016.2

p.T334T

c.1002C>T

5 papers

NM_001360016.2

p.T336A

c.1006A>G

1 paper

NM_001360016.2

p.T334N

c.1001C>A

1 paper

NM_001360016.2

p.T336T

c.1008T>C

1 paper

NM_001360016.2

p.T334P

c.1000A>C