KEGG VARIANT: 3418v1

VARIANT: 3418v1

Entry

3418v1                      Variant

Name

IDH2 mutation

Gene

IDH2 isocitrate dehydrogenase (NADP(+)) 2 [KO:K00031]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation R140Q
ClinVar: 14716
dbSNP: rs121913502

Variation

mutation R172S
ClinVar: 375985
dbSNP: rs1057519736

Drug target

Enasidenib (DG02837):

D11044<US>

Reference

PMID:20171147

Authors

Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, Cross JR, Fantin VR, Hedvat CV, Perl AE, Rabinowitz JD, Carroll M, Su SM, Sharp KA, Levine RL, Thompson CB

Title

The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate.

Journal

Cancer Cell 17:225-34 (2010)
DOI:10.1016/j.ccr.2010.01.020

LinkDB

DBGET integrated database retrieval system