ARID1A c.1848del ;(p.S617Qfs*2)

Variant ID: 1-27059206-GC-G

NM_006015.4(ARID1A):c.1848del;(p.S617Qfs*2)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: ARID1A: 1848delC; S617Qfs*2
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Frontiers In Oncology
Pasculli, Barbara B; Barbano, Raffaela R; Fontana, Andrea A; Biagini, Tommaso T; Di Viesti, Maria Pia MP; Rendina, Michelina M; Valori, Vanna Maria VM; Morritti, Maria M; Bravaccini, Sara S; Ravaioli, Sara S; Maiello, Evaristo E; Graziano, Paolo P; Murgo, Roberto R; Copetti, Massimiliano M; Mazza, Tommaso T; Fazio, Vito Michele VM; Esteller, Manel M; Parrella, Paola P
Publication Date: 2020

Variant appearance in text: ARID1A: 1848delC
PubMed Link: 32903519
Variant Present in the following documents:
  • Table_1.xlsx, sheet 7
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ARID1A: 1844delC
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.

Human Mutation
Jones, Siân S; Li, Meng M; Parsons, D Williams DW; Zhang, Xiaosong X; Wesseling, Jelle J; Kristel, Petra P; Schmidt, Marjanka K MK; Markowitz, Sanford S; Yan, Hai H; Bigner, Darell D; Hruban, Ralph H RH; Eshleman, James R JR; Iacobuzio-Donahue, Christine A CA; Goggins, Michael M; Maitra, Anirban A; Malek, Sami N SN; Powell, Steve S; Vogelstein, Bert B; Kinzler, Kenneth W KW; Velculescu, Victor E VE; Papadopoulos, Nickolas N
Publication Date: 2012-01

Variant appearance in text: ARID1A: 1848delC
PubMed Link: 22009941
Variant Present in the following documents:
  • Main text
  • humu0033-0100.pdf
View BVdb publication page