KEGG   VARIANT: 5925v2Help
Entry
5925v2                      Variant                                

Name
RB1 mutation
Gene
RB1  RB transcriptional corepressor 1 [KO:K06618]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation R661W
ClinVar: 13087
dbSNP: rs137853294
COSM: 861
Variation
mutation R251*
ClinVar: 428681
dbSNP: rs1131690863
COSM: 878
Variation
mutation M208V
COSM: 859
Variation
mutation L158S
COSM: 860
Variation
mutation I138S
COSM: 862
Variation
mutation S794I
COSM: 864
Network
nt06230  Cell cycle G1/S
nt06265  Bladder cancer
nt06267  Small cell lung cancer
  Element
N00075  Mutation-inactivated RB1 to cell cycle G1/S
Reference
PMID:7710951
  Authors
Miyamoto H, Shuin T, Torigoe S, Iwasaki Y, Kubota Y
  Title
Retinoblastoma gene mutations in primary human bladder cancer.
  Journal
Br J Cancer 71:831-5 (1995)
Reference
  Authors
Peifer M, Fernandez-Cuesta L, Sos ML, George J, Seidel D, Kasper LH, Plenker D, Leenders F, Sun R, Zander T, Menon R, Koker M, Dahmen I, Muller C, Di Cerbo V, Schildhaus HU, Altmuller J, Baessmann I, Becker C, de Wilde B, Vandesompele J, Bohm D, Ansen S, Gabler F, Wilkening I, Heynck S, Heuckmann JM, Lu X, Carter SL, Cibulskis K, Banerji S, Getz G, Park KS, Rauh D, Grutter C, Fischer M, Pasqualucci L, Wright G, Wainer Z, Russell P, Petersen I, Chen Y, Stoelben E, Ludwig C, Schnabel P, Hoffmann H, Muley T, Brockmann M, Engel-Riedel W, Muscarella LA, Fazio VM, Groen H, Timens W, Sietsma H, Thunnissen E, Smit E, Heideman DA, Snijders PJ, Cappuzzo F, Ligorio C, Damiani S, Field J, Solberg S, Brustugun OT, Lund-Iversen M, Sanger J, Clement JH, Soltermann A, Moch H, Weder W, Solomon B, Soria JC, Validire P, Besse B, Brambilla E, Brambilla C, Lantuejoul S, Lorimier P, Schneider PM, Hallek M, Pao W, Meyerson M, Sage J, Shendure J, Schneider R, Buttner R, Wolf J, Nurnberg P, Perner S, Heukamp LC, Brindle PK, Haas S, Thomas RK
  Title
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.
  Journal
Nat Genet 44:1104-10 (2012)
DOI:10.1038/ng.2396
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