Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.F126L

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
2 papers
NM_002168.4
p.F126L
c.378C>A
Surrounding Variants
2 papers
NM_002168.4
p.F126L
c.378C>G
2 papers
NM_002168.4
p.F126L
c.376T>C
1 paper
NM_002168.4
p.K127R
c.380A>G
1 paper
NM_002168.4
p.L128M
c.382C>A
1 paper
NM_002168.4
p.E125A
c.374A>C
1 paper
NM_002168.4
p.K129R
c.386A>G
1 paper
NM_002168.4
p.K130Q
c.388A>C
2 papers
NM_002168.4
p.K130M
c.389A>T
1 paper
NM_002168.4
p.K130del1
c.388_389delCTT
2 papers
NM_002168.4
p.M131I
c.393G>T
2 papers
NM_002168.4
p.M131I
c.393G>C
2 papers
NM_002168.4
p.M131I
c.393G>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."