BARD1 c.1399G>A ;(p.E467K)

Variant ID: 2-215632375-C-T

NM_000465.2(BARD1):c.1399G>A;(p.E467K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids.

Nature Cell Biology
Nakamura, Kyosuke K; Saredi, Giulia G; Becker, Jordan R JR; Foster, Benjamin M BM; Nguyen, Nhuong V NV; Beyer, Tracey E TE; Cesa, Laura C LC; Faull, Peter A PA; Lukauskas, Saulius S; Frimurer, Thomas T; Chapman, J Ross JR; Bartke, Till T; Groth, Anja A
Publication Date: 2019-03

Variant appearance in text: BARD1: E467K
PubMed Link: 30804502
Variant Present in the following documents:
  • Main text
  • emss-81307.pdf
View BVdb publication page



Dualistic Role of BARD1 in Cancer.

Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08

Variant appearance in text: BARD1: E467K
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
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: BARD1: 1399G>A; E467K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Genome Medicine
Uzilov, Andrew V AV; Ding, Wei W; Fink, Marc Y MY; Antipin, Yevgeniy Y; Brohl, Andrew S AS; Davis, Claire C; Lau, Chun Yee CY; Pandya, Chetanya C; Shah, Hardik H; Kasai, Yumi Y; Powell, James J; Micchelli, Mark M; Castellanos, Rafael R; Zhang, Zhongyang Z; Linderman, Michael M; Kinoshita, Yayoi Y; Zweig, Micol M; Raustad, Katie K; Cheung, Kakit K; Castillo, Diane D; Wooten, Melissa M; Bourzgui, Imane I; Newman, Leah C LC; Deikus, Gintaras G; Mathew, Bino B; Zhu, Jun J; Glicksberg, Benjamin S BS; Moe, Aye S AS; Liao, Jun J; Edelmann, Lisa L; Dudley, Joel T JT; Maki, Robert G RG; Kasarskis, Andrew A; Holcombe, Randall F RF; Mahajan, Milind M; Hao, Ke K; Reva, Boris B; Longtine, Janina J; Starcevic, Daniela D; Sebra, Robert R; Donovan, Michael J MJ; Li, Shuyu S; Schadt, Eric E EE; Chen, Rong R
Publication Date: 2016-06-01

Variant appearance in text: BARD1: E467K
PubMed Link: 27245685
Variant Present in the following documents:
  • 13073_2016_313_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page