KEGG   VARIANT: 4233v1
Entry
4233v1                      Variant                                
Name
MET kinase domain mutation
Gene
MET  MET proto-oncogene, receptor tyrosine kinase [KO:K05099]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation V1110I
ClinVar: 186141
dbSNP: rs5030821
COSM: 3724572
Variation
mutation H1112Y
ClinVar: 376068
dbSNP: rs121913244
COSM: 696
Variation
mutation M1149T
ClinVar: 13881
dbSNP: rs121913668
COSM: 704
Variation
mutation V1206L
ClinVar: 13882
dbSNP: rs121913669
COSM: 3724576 5015793
Variation
mutation L1213V
ClinVar: 13886
dbSNP: rs121913673
COSM: 688
Variation
mutation V1238I
ClinVar: 13883
dbSNP: rs121913670
COSM: 1673476
Variation
mutation D1246H
ClinVar: 376728
dbSNP: rs121913671
COSM: 689
Variation
mutation M1268T
ClinVar: 376126
dbSNP: rs121913245
COSM: 691
Variation
mutation T1191I
ClinVar: 13888
dbSNP: rs121913675
COSM: 693
Variation
mutation M1268I
ClinVar: 13889
dbSNP: rs121913676
COSM: 694
Variation
mutation K1262R
ClinVar: 13890
dbSNP: rs121913677
COSM: 695
Variation
mutation H1112L
COSM: 698
Variation
mutation H1124D
COSM: 697
Network
nt06210  ERK signaling (cancer)
nt06214  PI3K signaling (cancer)
nt06263  Hepatocellular carcinoma
nt06264  Renal cell carcinoma
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H00021  Renal cell carcinoma
H00048  Hepatocellular carcinoma
Reference
  Authors
Schmidt L, Junker K, Nakaigawa N, Kinjerski T, Weirich G, Miller M, Lubensky I, Neumann HP, Brauch H, Decker J, Vocke C, Brown JA, Jenkins R, Richard S, Bergerheim U, Gerrard B, Dean M, Linehan WM, Zbar B
  Title
Novel mutations of the MET proto-oncogene in papillary renal carcinomas.
  Journal
Oncogene 18:2343-50 (1999)
DOI:10.1038/sj.onc.1202547
Reference
PMID:9927037
  Authors
Park WS, Dong SM, Kim SY, Na EY, Shin MS, Pi JH, Kim BJ, Bae JH, Hong YK, Lee KS, Lee SH, Yoo NJ, Jang JJ, Pack S, Zhuang Z, Schmidt L, Zbar B, Lee JY
  Title
Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas.
  Journal
Cancer Res 59:307-10 (1999)
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