KEGG   VARIANT: 3418v2
Entry
3418v2                      Variant                                
Name
IDH2 mutation
Type
Loss of function
Gene
IDH2  isocitrate dehydrogenase (NADP(+)) 2 [KO:K00031]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147650
Network
nt06031  Citrate cycle and pyruvate metabolism
Disease
H01225  D-2-hydroxyglutaric aciduria
Reference
  Authors
Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS
  Title
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
  Journal
Science 330:336 (2010)
DOI:10.1126/science.1192632
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