Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.S301R

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.S301R
c.903C>G
Surrounding Variants
1 paper
NM_002631.4
p.S301R
c.903C>A
1 paper
NM_002631.4
p.S301R
c.901A>C
1 paper
NM_002631.4
p.L304_K305insA
c.910_914ins3
1 paper
NM_002631.4
p.R297K
c.890G>A
1 paper
NM_002631.4
p.D295H
c.883G>C
1 paper
NM_002631.4
p.K294R
c.881A>G
1 paper
NM_002631.4
p.K294fs
c.880_881fs
1 paper
NM_002631.4
p.K294Q
c.880A>C
1 paper
NM_002631.4
p.K309R
c.926A>G
1 paper
NM_002631.4
p.K294delFs
c.880delA
1 paper
NM_002631.4
p.A284_V285delFs
c.852_855del4
1 paper
NM_002631.4
p.E321A
c.962A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."