SMARCA4 c.810del ;(p.M272Cfs*31)

Variant ID: 19-11097624-GC-G

NM_003072.3(SMARCA4):c.810del;(p.M272Cfs*31)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

The Journal Of Pathology
Bleijenberg, Arne Gc AG; IJspeert, Joep Eg JE; Mulder, Jos Bg JB; Drillenburg, Paul P; Stel, Herbert V HV; Lodder, Elisabeth M EM; Carvalho, Beatriz B; Jansen, Jade J; Meijer, Gerrit G; van Eeden, Susanne S; Dekker, Evelien E; van Noesel, Carel Jm CJ
Publication Date: 2022-06

Variant appearance in text: SMARCA4: 810del; M272Cfs*31
PubMed Link: 35143042
Variant Present in the following documents:
  • PATH-257-239-s001.xlsx, sheet 2
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 810del; M272Cfs*31
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: SMARCA4: 810delC; M272Cfs*31
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: SMARCA4: 805delC; M272fs
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



SMARCA4-inactivating mutations increase sensitivity to Aurora kinase A inhibitor VX-680 in non-small cell lung cancers.

Nature Communications
Tagal, Vural V; Wei, Shuguang S; Zhang, Wei W; Brekken, Rolf A RA; Posner, Bruce A BA; Peyton, Michael M; Girard, Luc L; Hwang, TaeHyun T; Wheeler, David A DA; Minna, John D JD; White, Michael A MA; Gazdar, Adi F AF; Roth, Michael G MG
Publication Date: 2017-01-19

Variant appearance in text: SMARCA4: 805delC
PubMed Link: 28102363
Variant Present in the following documents:
  • ncomms14098-s4.xlsx, sheet 1
View BVdb publication page