KEGG   VARIANT: 1019v2
Entry
1019v2                      Variant                                

Name
CDK4 mutation
Gene
CDK4  cyclin dependent kinase 4 [KO:K02089]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R24C
ClinVar: 16928
dbSNP: rs11547328
COSM: 1677139
Variation
mutation R24H
ClinVar: 16929
dbSNP: rs104894340
COSM: 1989836
Reference
PMID:8528263
  Authors
Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC
  Title
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
  Journal
Nat Genet 12:97-9 (1996)
DOI:10.1038/ng0196-97
Reference
PMID:7652577
  Authors
Wolfel T, Hauer M, Schneider J, Serrano M, Wolfel C, Klehmann-Hieb E, De Plaen E, Hankeln T, Meyer zum Buschenfelde KH, Beach D
  Title
A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma.
  Journal
Science 269:1281-4 (1995)
DOI:10.1126/science.7652577
Reference
PMID:9425228
  Authors
Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J, Bressac-de Paillerets B
  Title
Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group.
  Journal
Hum Mol Genet 7:209-16 (1998)
DOI:10.1093/hmg/7.2.209
Reference
PMID:9426066
  Authors
Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG
  Title
Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene.
  Journal
Cancer Res 58:109-13 (1998)
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