Varaico: Literature-Extracted Genetic Variants

Gene:IDH3B
Variant:p.F80Y

IDH3B

66 papers

RefSeq Summary

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor...

Pfam Domains

Iso_dhaa 50–376UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

HGNC Alias Symbol

RP46

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006899.5
p.F80Y
c.239T>A
Surrounding Variants
1 paper
NM_006899.5
p.H84D
c.250C>G
1 paper
NM_006899.5
p.L85ins3
c.253_254ins9
1 paper
NM_006899.5
p.A74A
c.222C>T
1 paper
NM_006899.5
p.E98K
c.292G>A
1 paper
NM_006899.5
p.V100L
c.298G>T
1 paper
NM_006899.5
p.V100L
c.298G>C
1 paper
NM_006899.5
p.M104I
c.312G>T
1 paper
NM_006899.5
p.M104I
c.312G>C
1 paper
NM_006899.5
p.M104I
c.312G>A
1 paper
NM_006899.5
p.E106K
c.316G>A
1 paper
NM_006899.5
p.E106_I111del6
c.316_332del18
1 paper
NM_006899.5
p.M64T
c.191T>C
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