KEGG   VARIANT: 6608v1
Entry
6608v1                      Variant                                

Name
SMO mutation
Gene
SMO  smoothened, frizzled class receptor [KO:K06226]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation W535L
ClinVar: 8117
dbSNP: rs121918347
COSM: 13146
Variation
mutation R562Q
ClinVar: 8118
dbSNP: rs121918348
COSM: 13152
Reference
PMID:9989836
  Authors
Lam CW, Xie J, To KF, Ng HK, Lee KC, Yuen NW, Lim PL, Chan LY, Tong SF, McCormick F
  Title
A frequent activated smoothened mutation in sporadic basal cell carcinomas.
  Journal
Oncogene 18:833-6 (1999)
DOI:10.1038/sj.onc.1202360
Reference
PMID:9581815
  Authors
Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P, Reifenberger G
  Title
Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
  Journal
Cancer Res 58:1798-803 (1998)
Reference
PMID:9422511
  Authors
Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ
  Title
Activating Smoothened mutations in sporadic basal-cell carcinoma.
  Journal
Nature 391:90-2 (1998)
DOI:10.1038/34201
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