RB1 c.1819C>A ;(p.L607I)

Variant ID: 13-49030344-C-A

NM_000321.2(RB1):c.1819C>A;(p.L607I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: RB1: L607I
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: RB1: L607I
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: RB1: L607I
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Identification and characterization of retinoblastoma gene mutations disturbing apoptosis in human breast cancers.

Molecular Cancer
Berge, Elisabet Ognedal EO; Knappskog, Stian S; Geisler, Stephanie S; Staalesen, Vidar V; Pacal, Marec M; Børresen-Dale, Anne-Lise AL; Puntervoll, Pål P; Lillehaug, Johan Richard JR; Lønning, Per Eystein PE
Publication Date: 2010-07-01

Variant appearance in text: RB1: Leu607Ile
PubMed Link: 20594292
Variant Present in the following documents:
  • Main text
  • 1476-4598-9-173.pdf
View BVdb publication page