Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.G131V

PGD

199 papers

RefSeq Summary

6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal domi...

Pfam Domains

NAD_binding_2aa 5–175UCSCNAD binding domain of 6-phosphogluconate dehydrogenase
6PGDaa 180–469UCSC6-phosphogluconate dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

phosphogluconate dehydrogenase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_002631.4
p.G131V
c.392G>T
Surrounding Variants
1 paper
NM_002631.4
p.E132Q
c.394G>C
1 paper
NM_002631.4
p.G130V
c.389G>T
1 paper
NM_002631.4
p.S129C
c.385A>T
2 papers
NM_002631.4
p.V128A
c.383T>C
1 paper
NM_002631.4
p.G127E
c.380G>A
2 papers
NM_002631.4
p.R136W
c.406C>T
1 paper
NM_002631.4
p.S126S
c.378C>T
2 papers
NM_002631.4
p.S126G
c.376A>G
1 paper
NM_002631.4
p.S126C
c.376A>T
1 paper
NM_002631.4
p.G138D
c.413G>A
1 paper
NM_002631.4
p.P139A
c.415C>G
1 paper
NM_002631.4
p.L122V
c.364T>G
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