KEGG   VARIANT: 861v3Help
Entry
861v3                      Variant                                 

Name
AML1 mutation
Gene
RUNX1  RUNX family transcription factor 1 [KO:K08367]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R166Q
ClinVar: 417961
dbSNP: rs1060499616
COSM: 36055
Variation
mutation R201Q
ClinVar: 14464
dbSNP: rs74315450
COSM: 24805
Network
nt06240  Transcription
nt06275  Acute myeloid leukemia
  Element
N00116  Mutation-inactivated RUNX1 to transcription
Reference
  Authors
Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Rock J, Paschka P, Corbacioglu A, Krauter J, Schlegelberger B, Ganser A, Spath D, Kundgen A, Schmidt-Wolf IG, Gotze K, Nachbaur D, Pfreundschuh M, Horst HA, Dohner H, Dohner K
  Title
RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group.
  Journal
J Clin Oncol 29:1364-72 (2011)
DOI:10.1200/JCO.2010.30.7926
Reference
  Authors
Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Dohner K, Schlenk RF, Dohner H, Campbell PJ
  Title
Genomic Classification and Prognosis in Acute Myeloid Leukemia.
  Journal
N Engl J Med 374:2209-2221 (2016)
DOI:10.1056/NEJMoa1516192
Reference
  Authors
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG
  Title
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
  Journal
Nat Genet 23:166-75 (1999)
DOI:10.1038/13793
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