Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.R172W

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
162 papers
NM_002168.4
p.R172W
c.514A>T
Surrounding Variants
194 papers
NM_002168.4
p.R172G
c.514A>G
NM_001289910.1
p.R120G
c.358A>G
1 paper
NM_002168.4
p.R172R
c.514A>C
1 paper
NM_002168.4
p.I168_R172delins
c.502_514delinsGTCACCATTGGCG
193 papers
NM_002168.4
p.R172M
c.515G>T
NM_001290114.2
p.R42M
c.125G>T
78 papers
NM_002168.4
p.R172T
c.515G>C
721 papers
NM_002168.4
p.R172K
c.515G>A
1 paper
NM_002168.4
p.R172delins
c.514_515delinsGT
251 papers
NM_002168.4
p.R172S
c.516G>T
NM_001290114.2
p.R42S
c.126G>T
252 papers
NM_002168.4
p.R172S
c.516G>C
6 papers
NM_002168.4
p.G171D
c.512G>A
1 paper
NM_002168.4
p.R172R
c.516G>A
1 paper
NM_002168.4
p.K166_I170del5
c.496_509del15
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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."