KEGG   VARIANT: 2322v2Help
Entry
2322v2                      Variant                                

Name
FLT3 internal tandem duplication (ITD)
Gene
FLT3  fms related tyrosine kinase 3 [KO:K05092]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
FLT3-ITD
ClinVar: 16270
Network
nt06210  ERK signaling
nt06214  PI3K signaling
nt06219  JAK-STAT signaling
nt06275  Acute myeloid leukemia
  Element
N00004  Duplication or mutation-activated FLT3 to RAS-ERK signaling pathway
N00031  Duplication or mutation-activated FLT3 to RAS-PI3K signaling pathway
N00054  Duplication or mutation-activated FLT3 to Jak-STAT signaling pathway
Reference
  Authors
Stirewalt DL, Radich JP.
  Title
The role of FLT3 in haematopoietic malignancies.
  Journal
Nat Rev Cancer 3:650-65 (2003)
DOI:10.1038/nrc1169
Reference
  Authors
Small D
  Title
FLT3 mutations: biology and treatment.
  Journal
Hematology Am Soc Hematol Educ Program 178-84 (2006)
DOI:10.1182/asheducation-2006.1.178
Reference
  Authors
Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H.
  Title
The molecular pathogenesis of acute myeloid leukemia.
  Journal
Crit Rev Oncol Hematol 56:195-221 (2005)
DOI:10.1016/j.critrevonc.2004.10.012
Reference
  Authors
Kelly LM, Gilliland DG.
  Title
Genetics of myeloid leukemias.
  Journal
Annu Rev Genomics Hum Genet 3:179-98 (2002)
DOI:10.1146/annurev.genom.3.032802.115046

KEGG   VARIANT: 2322v1Help
Entry
2322v1                      Variant                                

Name
FLT3 kinase domain mutation
Gene
FLT3  fms related tyrosine kinase 3 [KO:K05092]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D835Y
ClinVar: 16276
dbSNP: rs121913488
COSM: 783
Variation
mutation D835H
ClinVar: 16273
dbSNP: rs121913488
COSM: 785
Variation
mutation D835V
ClinVar: 16272
dbSNP: rs121909646
COSM: 784
Variation
mutation D835E
ClinVar: 375971 375972
dbSNP: rs121913487
COSM: 788 787
Variation
mutation D835N
ClinVar: 16274
dbSNP: rs121913488
COSM: 789
Network
nt06210  ERK signaling
nt06214  PI3K signaling
nt06219  JAK-STAT signaling
nt06275  Acute myeloid leukemia
  Element
N00004  Duplication or mutation-activated FLT3 to RAS-ERK signaling pathway
N00031  Duplication or mutation-activated FLT3 to RAS-PI3K signaling pathway
N00054  Duplication or mutation-activated FLT3 to Jak-STAT signaling pathway
Reference
  Authors
Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H.
  Title
The molecular pathogenesis of acute myeloid leukemia.
  Journal
Crit Rev Oncol Hematol 56:195-221 (2005)
DOI:10.1016/j.critrevonc.2004.10.012
Reference
  Authors
Kelly LM, Gilliland DG.
  Title
Genetics of myeloid leukemias.
  Journal
Annu Rev Genomics Hum Genet 3:179-98 (2002)
DOI:10.1146/annurev.genom.3.032802.115046
Reference
  Authors
Kiyoi H, Naoe T.
  Title
Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation.
  Journal
Int J Hematol 83:301-8 (2006)
DOI:10.1532/IJH97.06071

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