Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.I142T

IDH2

2,456 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 45–441UCSCIsocitrate/isopropylmalate dehydrogenase

Gene Aliases

HGNC Name

isocitrate dehydrogenase (NADP(+)) 2

HGNC Alias Symbol

IDH-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002168.4
p.I142T
c.425T>C
Surrounding Variants
3 papers
NM_002168.4
p.I142L
c.424A>C
1 paper
NM_002168.4
p.L143M
c.427C>A
1 paper
NM_002168.4
p.K130_I142delFs
c.390_426del37
1 paper
NM_002168.4
p.L143insFs
c.428_429insG
1 paper
NM_002168.4
p.N141S
c.422A>G
2 papers
NM_002168.4
p.L143L
c.429G>C
1 paper
NM_002168.4
p.N141fs
c.421_422fs
1 paper
NM_002168.4
p.G144W
c.430G>T
2 papers
NM_002168.4
p.G144R
c.430G>C
1 paper
NM_002168.4
p.G144R
c.430G>A
1 paper
NM_002168.4
p.R140R
c.420G>A
90 papers
NM_002168.4
p.R140L
c.419G>T
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