Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.E124D

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
3 papers
NM_002168.4
p.E124D
c.372A>T
Surrounding Variants
1 paper
NM_002168.4
p.E125K
c.373G>A
1 paper
NM_002168.4
p.E124A
c.371A>C
1 paper
NM_002168.4
p.E125Splc
c.373+2T>G
1 paper
NM_002168.4
p.E125Splc
c.373+3G>T
1 paper
NM_002168.4
p.V123L
c.367G>C
1 paper
NM_002168.4
p.V123M
c.367G>A
1 paper
NM_002168.4
p.R122H
c.365G>A
2 papers
NM_002168.4
p.R122C
c.364C>T
1 paper
NM_002168.4
p.A121T
c.361G>A
1 paper
NM_002168.4
p.E120D
c.360G>T
1 paper
NM_002168.4
p.D119N
c.355G>A
1 paper
NM_002168.4
p.P118L
c.353C>T
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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."