HR c.2993G>A ;(p.R998Q)

Variant ID: 8-21976781-C-T

NM_005144.4(HR):c.2993G>A;(p.R998Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The essentiality landscape of cell cycle related genes in human pluripotent and cancer cells.

Cell Division
Viner-Breuer, Ruth R; Yilmaz, Atilgan A; Benvenisty, Nissim N; Goldberg, Michal M
Publication Date: 2019

Variant appearance in text: HR: 2993G>A; R998Q
PubMed Link: 31889988
Variant Present in the following documents:
  • 13008_2019_58_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications
Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H
Publication Date: 2019-11-22

Variant appearance in text: HR: 2993G>A
PubMed Link: 31757951
Variant Present in the following documents:
  • 41467_2019_13194_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Nucleic Acids Research
Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY
Publication Date: 2019-11-18

Variant appearance in text: HR: 2993G>A
PubMed Link: 31586400
Variant Present in the following documents:
  • Main text
  • gkz780.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: HR: 2993G>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
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: HR: 2993G>A; R998Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: HR: R998Q; rs138875411
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
  • pone.0101670.s002.xlsx, sheet 1
View BVdb publication page