KEGG   VARIANT: 3815v1
Entry
3815v1                      Variant                                
Name
KIT kinase domain mutation
Type
Gain of function
Gene
KIT  mast/stem cell growth factor receptor Kit isoform 1 precursor [KO:K05091]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D816Y
ClinVar: 13860
dbSNP: rs121913506
COSM: 1310
Variation
mutation D816H
ClinVar: 13863
dbSNP: rs121913506
COSM: 1311
Variation
mutation D816V
ClinVar: 13852
dbSNP: rs121913507
COSM: 1314
Network
nt06210  ERK signaling (cancer)
nt06214  PI3K signaling (cancer)
nt06275  Acute myeloid leukemia
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H00003  Acute myeloid leukemia
Drug target
Avapritinib: D11279<US>
Bezuclastinib: D12600
Tuspetinib: D12476
Reference
PMID:16254134
  Authors
Schnittger S, Kohl TM, Haferlach T, Kern W, Hiddemann W, Spiekermann K, Schoch C
  Title
KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival.
  Journal
Blood 107:1791-9 (2006)
DOI:10.1182/blood-2005-04-1466
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