Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R140L

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
90 papers
NM_002168.4
p.R140L
c.419G>T
Surrounding Variants
1 paper
NM_002168.4
p.I139_R140insFs
c.415_418dup4
1 paper
NM_002168.4
p.R140P
c.419G>C
915 papers
NM_002168.4
p.R140Q
c.419G>A
NM_001289910.1
p.R88Q
c.263G>A
1 paper
NM_002168.4
p.R140R
c.420G>A
168 papers
NM_002168.4
p.R140W
c.418C>T
71 papers
NM_002168.4
p.R140G
c.418C>G
1 paper
NM_002168.4
p.I139M
c.417C>G
1 paper
NM_002168.4
p.N141fs
c.421_422fs
2 papers
NM_002168.4
p.I139T
c.416T>C
1 paper
NM_002168.4
p.I139N
c.416T>A
1 paper
NM_002168.4
p.N141S
c.422A>G
1 paper
NM_002168.4
p.I139F
c.415A>T
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