Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.N23K

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
1 paper
NM_002631.4
p.N23K
c.69T>G
Surrounding Variants
1 paper
NM_002631.4
p.N23K
c.69T>A
1 paper
NM_002631.4
p.D24E
c.72C>A
1 paper
NM_002631.4
p.D24E
c.72C>G
1 paper
NM_002631.4
p.L20P
c.59T>C
1 paper
NM_002631.4
p.F27V
c.79T>G
1 paper
NM_002631.4
p.F27F
c.81T>C
1 paper
NM_002631.4
p.V28M
c.82G>A
1 paper
NM_002631.4
p.V28V
c.84G>A
1 paper
NM_002631.4
p.V28_V29Splc
c.84+1G>A
1 paper
NM_002631.4
p.N17N
c.51C>T
1 paper
NM_002631.4
p.Q16L
c.47A>T
1 paper
NM_002631.4
p.L18_N21del4
c.52_62del12
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