CSMD1 c.5296G>A ;(p.E1766K)

Variant ID: 8-3047536-C-T

NM_033225.5(CSMD1):c.5296G>A;(p.E1766K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: CSMD1: 5296G>A; E1766K
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CSMD1: 5296G>A; Glu1766Lys
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Publication Date: 2018-05-22

Variant appearance in text: CSMD1: 5296G>A; E1766K
PubMed Link: 29789628
Variant Present in the following documents:
  • 41467_2018_4356_MOESM11_ESM.xlsx, sheet 7
View BVdb publication page



Rho-associated kinase is a therapeutic target in neuroblastoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dyberg, Cecilia C; Fransson, Susanne S; Andonova, Teodora T; Sveinbjörnsson, Baldur B; Lännerholm-Palm, Jessika J; Olsen, Thale K TK; Forsberg, David D; Herlenius, Eric E; Martinsson, Tommy T; Brodin, Bertha B; Kogner, Per P; Johnsen, John Inge JI; Wickström, Malin M
Publication Date: 2017-08-08

Variant appearance in text: CSMD1: 5296G>A; E1766K
PubMed Link: 28739902
Variant Present in the following documents:
  • Main text
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: CSMD1: E1766K
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page