IDH1 c.244_246delinsCAT ;(p.R82H)

Variant ID: 2-209113261-CCT-ATG

NM_005896.2(IDH1):c.244_246delinsCAT;(p.R82H)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: IDH1: Arg82His
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: IDH1: Arg82His
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.

Oncotarget
Namatame, Nachi N; Tamaki, Naomi N; Yoshizawa, Yuya Y; Okamura, Mutsumi M; Nishimura, Yumiko Y; Yamazaki, Kanami K; Tanaka, Miwa M; Nakamura, Takuro T; Semba, Kentaro K; Yamori, Takao T; Yaguchi, Shin-Ichi SI; Dan, Shingo S
Publication Date: 2018-10-12

Variant appearance in text: IDH1: R82H
PubMed Link: 30416685
Variant Present in the following documents:
  • Main text
View BVdb publication page



The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: IDH1: R82H
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Acta Neuropathologica Communications
Aihara, Koki K; Mukasa, Akitake A; Nagae, Genta G; Nomura, Masashi M; Yamamoto, Shogo S; Ueda, Hiroki H; Tatsuno, Kenji K; Shibahara, Junji J; Takahashi, Miwako M; Momose, Toshimitsu T; Tanaka, Shota S; Takayanagi, Shunsaku S; Yanagisawa, Shunsuke S; Nejo, Takahide T; Takahashi, Satoshi S; Omata, Mayu M; Otani, Ryohei R; Saito, Kuniaki K; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Aburatani, Hiroyuki H; Saito, Nobuhito N
Publication Date: 2017-03-07

Variant appearance in text: IDH1: R82H
PubMed Link: 28270234
Variant Present in the following documents:
  • 40478_2017_422_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page