Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.M205I

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.M205I
c.615G>T
Surrounding Variants
1 paper
NM_002631.4
p.M205I
c.615G>A
1 paper
NM_002631.4
p.M205I
c.615G>C
1 paper
NM_002631.4
p.A212T
c.634G>A
1 paper
NM_002631.4
p.E191D
c.573G>C
1 paper
NM_002631.4
p.E191D
c.573G>T
1 paper
NM_002631.4
p.E191A
c.572A>C
1 paper
NM_002631.4
p.I190R
c.569T>G
1 paper
NM_002631.4
p.G189R
c.565G>A
1 paper
NM_002631.4
p.G189R
c.565G>C
1 paper
NM_002631.4
p.G189delFs
c.567delG
1 paper
NM_002631.4
p.G178R
c.532G>A
1 paper
NM_002631.4
p.G178R
c.532G>C
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