Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.D83V

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.D83V
c.248A>T
Surrounding Variants
1 paper
NM_002168.4
p.D83delFs
c.247delC
1 paper
NM_002168.4
p.D83N
c.247G>A
25 papers
NM_002168.4
p.L84F
c.250C>T
1 paper
NM_002168.4
p.G85R
c.253G>C
1 paper
NM_002168.4
p.G85R
c.253G>A
1 paper
NM_002168.4
p.G85E
c.254G>A
1 paper
NM_002168.4
p.Y81F
c.242A>T
1 paper
NM_002168.4
p.L86P
c.257T>C
1 paper
NM_002168.4
p.K80R
c.239A>G
1 paper
NM_002168.4
p.K80Q
c.238A>C
1 paper
NM_002168.4
p.D76_L79delFs
c.227_236del10
1 paper
NM_002168.4
p.G85_L86del2
c.253_257del6
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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."