Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.E60*

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
2 papers
NM_002631.4
p.E60*
c.178G>T
Surrounding Variants
1 paper
NM_002631.4
p.K59R
c.176A>G
1 paper
NM_002631.4
p.S57Y
c.170C>A
1 paper
NM_002631.4
p.S57delFs
c.171delC
1 paper
NM_002631.4
p.K51N
c.153A>T
1 paper
NM_002631.4
p.R69W
c.205C>T
1 paper
NM_002631.4
p.T50T
c.150C>A
1 paper
NM_002631.4
p.T50N
c.149C>A
1 paper
NM_002631.4
p.G49Fs
c.145delinsGAFs
1 paper
NM_002631.4
p.L73delFs
c.218delT
1 paper
NM_002631.4
p.L74L
c.220C>T
1 paper
NM_002631.4
p.L74R
c.221T>G
1 paper
NM_002631.4
p.K76Q
c.226A>C
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