Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.Y328C

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.Y328C
c.983A>G
Surrounding Variants
1 paper
NM_002631.4
p.L341insFs
c.1022_1023insTC
8 papers
NM_002631.4
p.L342L
c.1024C>T
1 paper
NM_002631.4
p.N354D
c.1060A>G
1 paper
NM_002631.4
p.I358I
c.1074C>T
1 paper
NM_002631.4
p.A359_R363del0
c.1075_1089del15
1 paper
NM_002631.4
p.G365D
c.1094G>A
1 paper
NM_002631.4
p.I323T
c.968T>C
1 paper
NM_002631.4
p.E321A
c.962A>C
1 paper
NM_002631.4
p.K309R
c.926A>G
1 paper
NM_002631.4
p.L304_K305insA
c.910_914ins3
1 paper
NM_002631.4
p.S301R
c.903C>A
1 paper
NM_002631.4
p.S301R
c.903C>G
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