Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.H435Q

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
4 papers
NM_002631.4
p.H435Q
c.1305T>A
Surrounding Variants
4 papers
NM_002631.4
p.H435Q
c.1305T>G
1 paper
NM_002631.4
p.S428C
c.1283C>G
1 paper
NM_002631.4
p.F429del1
c.1285_1286delTTC
1 paper
NM_002631.4
p.I443_Q444insFs
c.1329_1330ins4
1 paper
NM_002631.4
p.A426_L427insFs
c.1278_1279ins4
1 paper
NM_002631.4
p.C422W
c.1266T>G
1 paper
NM_002631.4
p.M420insFs
c.1259_1260insA
1 paper
NM_002631.4
p.P419L
c.1256C>T
1 paper
NM_002631.4
p.A409E
c.1226C>A
1 paper
NM_002631.4
p.R408L
c.1223G>T
1 paper
NM_002631.4
p.R408W
c.1222C>T
1 paper
NM_002631.4
p.S405delFs
c.1213delT
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