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.M267_L268insFs

c.801_802insA

Surrounding Variants

1 paper

NM_001360016.2

p.L268L

c.802C>T

1 paper

NM_001360016.2

p.M267L

c.799A>T

1 paper

NM_001360016.2

p.M267L

c.799A>C

1 paper

NM_001360016.2

p.L268L

c.804G>A

1 paper

NM_001360016.2

p.Q266Q

c.798G>A

1 paper

NM_001360016.2

p.Q266L

c.797A>T

9 papers

NM_001360016.2

p.C269Y

c.806G>A

1 paper

NM_001360016.2

p.C269C

c.807T>C

1 paper

NM_000402.4

p.C299delFs

c.896delC

1 paper

NM_001360016.2

p.L265L

c.795G>A

1 paper

NM_001360016.2

p.L265delFs

c.793delG

1 paper

NM_001360016.2

p.R257_L265delFs

c.771_793del23