PTEN c.919_921del ;(p.E307del)

Variant ID: 10-89720768-AGAG-A

NM_000314.4(PTEN):c.919_921del;(p.E307del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The transcriptional landscape of Shh medulloblastoma.

Nature Communications
Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD
Publication Date: 2021-03-19

Variant appearance in text: PTEN: 919_921del
PubMed Link: 33741928
Variant Present in the following documents:
  • 41467_2021_21883_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
Publication Date: 2019-10

Variant appearance in text: PTEN: 919_921del
PubMed Link: 31664194
Variant Present in the following documents:
  • NIHMS1539056-supplement-2.xlsx, sheet 5
View BVdb publication page