Varaico: Literature-Extracted Genetic Variants

Gene:IDH3B
Variant:p.I163fs

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
2 papers
NM_006899.5
p.I163fs
c.487_488fs
Surrounding Variants
1 paper
NM_006899.5
p.L160R
c.479T>G
1 paper
NM_006899.5
p.S173A
c.517T>G
1 paper
NM_006899.5
p.L174R
c.521T>G
1 paper
NM_006899.5
p.H176R
c.527A>G
1 paper
NM_006899.5
p.V143A
c.428T>C
1 paper
NM_006899.5
p.S178G
c.532A>G
1 paper
NM_006899.5
p.L132P
c.395T>C
1 paper
NM_006899.5
p.T190R
c.569C>G
1 paper
NM_006899.5
p.Q195*
c.583C>T
1 paper
NM_006899.5
p.G123R
c.367G>C
1 paper
NM_006899.5
p.G123R
c.367G>A
1 paper
NM_006899.5
p.K199_F200del1
c.597_599delAAC
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