Varaico: Literature-Extracted Genetic Variants

Gene:IDH2

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
1–12 of 725 variants
914 papers
NM_002168.4
p.R140Q
c.419G>A
721 papers
NM_002168.4
p.R172K
c.515G>A
252 papers
NM_002168.4
p.R172S
c.516G>C
251 papers
NM_002168.4
p.R172S
c.516G>T
193 papers
NM_002168.4
p.R172G
c.514A>G
192 papers
NM_002168.4
p.R172M
c.515G>T
168 papers
NM_002168.4
p.R140W
c.418C>T
162 papers
NM_002168.4
p.R172W
c.514A>T
90 papers
NM_002168.4
p.R140L
c.419G>T
78 papers
NM_002168.4
p.R172T
c.515G>C
71 papers
NM_002168.4
p.R140G
c.418C>G
29 papers
NM_002168.4
p.W132*
c.395G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."