Varaico: Literature-Extracted Genetic Variants

Gene:PGD
Variant:p.M1T

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
2 papers
NM_002631.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_002631.4
p.M1R
c.2T>G
1 paper
NM_002631.4
p.M1insFs
c.2_3insA
1 paper
NM_002631.4
p.M1insFs
c.2_3ins4
1 paper
NM_002631.4
p.M1L
c.1A>C
2 papers
NM_002631.4
p.M1V
c.1A>G
1 paper
NM_002631.4
p.M1I
c.3G>A
1 paper
NM_002631.4
p.M1I
c.3G>C
1 paper
NM_002631.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_002631.4
p.M1I
c.3G>T
1 paper
NM_002631.4
p.A2G
c.5C>G
1 paper
NM_002631.4
p.Q3Splc
c.8+1G>A
1 paper
NM_002631.4
p.Q3Splc
c.9-1G>A
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