CRB1 c.2234C>G ;(p.T745R)

Variant ID: 1-197396689-C-G

NM_201253.2(CRB1):c.2234C>G;(p.T745R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Whole-genome doubling drives oncogenic loss of chromatin segregation.

Nature
Lambuta, Ruxandra A RA; Nanni, Luca L; Liu, Yuanlong Y; Diaz-Miyar, Juan J; Iyer, Arvind A; Tavernari, Daniele D; Katanayeva, Natalya N; Ciriello, Giovanni G; Oricchio, Elisa E
Publication Date: 2023-03-15

Variant appearance in text: CRB1: Thr745Arg
PubMed Link: 36922594
Variant Present in the following documents:
  • 41586_2023_5794_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: CRB1: 2234C>G; T745R
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: N/A
PubMed Link: 24913145
Variant Present in the following documents:
View BVdb publication page



Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.

European Journal Of Human Genetics : Ejhg
Shanks, Morag E ME; Downes, Susan M SM; Copley, Richard R RR; Lise, Stefano S; Broxholme, John J; Hudspith, Karl Az KA; Kwasniewska, Alexandra A; Davies, Wayne Il WI; Hankins, Mark W MW; Packham, Emily R ER; Clouston, Penny P; Seller, Anneke A; Wilkie, Andrew Om AO; Taylor, Jenny C JC; Ragoussis, Jiannis J; NĂ©meth, Andrea H AH
Publication Date: 2013-03

Variant appearance in text: rs28939720
PubMed Link: 22968130
Variant Present in the following documents:
  • Main text
View BVdb publication page