Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.Q3Splc

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.Q3Splc
c.9-1G>A
Surrounding Variants
1 paper
NM_002631.4
p.A4D
c.11C>A
1 paper
NM_002631.4
p.D5E
c.15C>A
1 paper
NM_002631.4
p.I6_A7delFs
c.18_21del4
1 paper
NM_002631.4
p.I6I
c.18C>T
1 paper
NM_002631.4
p.L8M
c.22C>A
1 paper
NM_002631.4
p.V13F
c.37G>T
1 paper
NM_002631.4
p.V13A
c.38T>C
1 paper
NM_002631.4
p.Q16L
c.47A>T
1 paper
NM_002631.4
p.L18_N21del4
c.52_62del12
1 paper
NM_002631.4
p.N17N
c.51C>T
1 paper
NM_002631.4
p.L20P
c.59T>C
1 paper
NM_002631.4
p.N23K
c.69T>A
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