RB1 c.2110A>G ;(p.M704V)

Variant ID: 13-49037870-A-G

NM_000321.2(RB1):c.2110A>G;(p.M704V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


APC/C and retinoblastoma interaction: cross-talk of retinoblastoma protein with the ubiquitin proteasome pathway.

Bioscience Reports
Ramanujan, Ajeena A; Tiwari, Swati S
Publication Date: 2016-10

Variant appearance in text: RB1: M704V
PubMed Link: 27402801
Variant Present in the following documents:
  • bsr036e377.pdf
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: RB1: 2110A>G; Met704Val
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
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: M704V
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



A cancer derived mutation in the retinoblastoma gene with a distinct defect for LXCXE dependent interactions.

Cancer Cell International
Henley, Shauna A SA; Francis, Sarah M SM; Demone, Jordan J; Ainsworth, Peter P; Dick, Frederick A FA
Publication Date: 2010-03-18

Variant appearance in text: RB1: M704V
PubMed Link: 20298605
Variant Present in the following documents:
  • Main text
  • 1475-2867-10-8.pdf
View BVdb publication page