SMARCA2 c.4253+135G>A

Variant ID: 9-2170607-G-A

NM_003070.3(SMARCA2):c.4253+135G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.

Acta Neuropathologica
Golebiewska, Anna A; Hau, Ann-Christin AC; Oudin, Anaïs A; Stieber, Daniel D; Yabo, Yahaya A YA; Baus, Virginie V; Barthelemy, Vanessa V; Klein, Eliane E; Bougnaud, Sébastien S; Keunen, Olivier O; Wantz, May M; Michelucci, Alessandro A; Neirinckx, Virginie V; Muller, Arnaud A; Kaoma, Tony T; Nazarov, Petr V PV; Azuaje, Francisco F; De Falco, Alfonso A; Flies, Ben B; Richart, Lorraine L; Poovathingal, Suresh S; Arns, Thais T; Grzyb, Kamil K; Mock, Andreas A; Herold-Mende, Christel C; Steino, Anne A; Brown, Dennis D; May, Patrick P; Miletic, Hrvoje H; Malta, Tathiane M TM; Noushmehr, Houtan H; Kwon, Yong-Jun YJ; Jahn, Winnie W; Klink, Barbara B; Tanner, Georgette G; Stead, Lucy F LF; Mittelbronn, Michel M; Skupin, Alexander A; Hertel, Frank F; Bjerkvig, Rolf R; Niclou, Simone P SP
Publication Date: 2020-12

Variant appearance in text: SMARCA2: 4253+135G>A
PubMed Link: 33009951
Variant Present in the following documents:
  • 401_2020_2226_MOESM1_ESM.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs117087869
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs117087869
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page