Varaico: Literature-Extracted Genetic Variants

Gene:PGD

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
1–12 of 176 variants
8 papers
NM_002631.4
p.G131V
c.392G>T
8 papers
NM_002631.4
p.L342L
c.1024C>T
4 papers
NM_002631.4
p.H435Q
c.1305T>A
4 papers
NM_002631.4
p.H435Q
c.1305T>G
3 papers
NM_002631.4
p.W173R
c.517T>C
2 papers
NM_002631.4
p.M1V
c.1A>G
2 papers
NM_002631.4
p.M1T
c.2T>C
2 papers
NM_002631.4
p.D40D
c.120T>C
2 papers
NM_002631.4
p.E60*
c.178G>T
2 papers
NM_002631.4
p.S126G
c.376A>G
2 papers
NM_002631.4
p.V128A
c.383T>C
2 papers
NM_002631.4
p.R136W
c.406C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."