Varaico: Literature-Extracted Genetic Variants

Gene:IDH2
Variant:p.L72R

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
1 paper
NM_002168.4
p.L72R
c.215T>G
Surrounding Variants
1 paper
NM_002168.4
p.L72delins
c.214_215delinsTG
1 paper
NM_002168.4
p.L72L
c.216G>T
1 paper
NM_002168.4
p.I71_L72insFs
c.213_214insT
1 paper
NM_002168.4
p.L70H
c.209T>A
1 paper
NM_002168.4
p.L70V
c.208C>G
1 paper
NM_002168.4
p.V75M
c.223G>A
21 papers
NM_002168.4
p.D76D
c.228C>T
1 paper
NM_002168.4
p.I77V
c.229A>G
1 paper
NM_002168.4
p.Q78L
c.233A>T
1 paper
NM_002168.4
p.L79P
c.236T>C
1 paper
NM_002168.4
p.K80Q
c.238A>C
1 paper
NM_002168.4
p.D76_L79delFs
c.227_236del10
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