RB1 c.1727C>T ;(p.S576L)

Variant ID: 13-49027160-C-T

NM_000321.2(RB1):c.1727C>T;(p.S576L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Oncotarget
Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R
Publication Date: 2017-09-29

Variant appearance in text: RB1: 1727C>T
PubMed Link: 29100278
Variant Present in the following documents:
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: RB1: Ser576Leu
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: RB1: 1727C>T; Ser576Leu
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Meta-Analysis of the Luminal and Basal Subtypes of Bladder Cancer and the Identification of Signature Immunohistochemical Markers for Clinical Use.

Ebiomedicine
Dadhania, Vipulkumar V; Zhang, Miao M; Zhang, Li L; Bondaruk, Jolanta J; Majewski, Tadeusz T; Siefker-Radtke, Arlene A; Guo, Charles C CC; Dinney, Colin C; Cogdell, David E DE; Zhang, Shizhen S; Lee, Sangkyou S; Lee, June G JG; Weinstein, John N JN; Baggerly, Keith K; McConkey, David D; Czerniak, Bogdan B
Publication Date: 2016-10

Variant appearance in text: RB1: S576L
PubMed Link: 27612592
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genomic Alterations in Biliary Tract Cancer Using Targeted Sequencing.

Translational Oncology
Yoo, Kwai Han KH; Kim, Nayoung K D NK; Kwon, Woo Il WI; Lee, Chung C; Kim, Sun Young SY; Jang, Jiryeon J; Ahn, Jungmi J; Kang, Mihyun M; Jang, Hyojin H; Kim, Seung Tae ST; Ahn, Soomin S; Jang, Kee-Taek KT; Park, Young Suk YS; Park, Woong-Yang WY; Lee, Jeeyun J; Heo, Jin Seok JS; Park, Joon Oh JO
Publication Date: 2016-06

Variant appearance in text: RB1: S576L
PubMed Link: 27267833
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One
Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M
Publication Date: 2015

Variant appearance in text: RB1: S576L
PubMed Link: 26010451
Variant Present in the following documents:
  • pone.0127146.s014.xlsx, sheet 1
  • pone.0127146.s014.xlsx, sheet 3
  • pone.0127146.s014.xlsx, sheet 4
View BVdb publication page