ARID1A c.6767C>G ;(p.S2256*)

Variant ID: 1-27107156-C-G

NM_006015.4(ARID1A):c.6767C>G;(p.S2256*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology
Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW
Publication Date: 2022-10-26

Variant appearance in text: ARID1A: Ser2256Ter
PubMed Link: 36287571
Variant Present in the following documents:
  • PATH-259-81-s011.xlsx, sheet 2
View BVdb publication page



p53 mitigates the effects of oncogenic HRAS in urothelial cells via the repression of MCOLN1.

Iscience
Jung, Jewon J; Liao, Han H; Coker, Shannon A SA; Liang, Hong H; Hancock, John F JF; Denicourt, Catherine C; Venkatachalam, Kartik K
Publication Date: 2021-07-23

Variant appearance in text: ARID1A: S2256*
PubMed Link: 34222845
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
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: ARID1A: S2256X
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page