PARP2 c.848G>A ;(p.R283Q)

Variant ID: 14-20823052-G-A

NM_001042618.1(PARP2):c.848G>A;(p.R283Q)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: PARP2: R283Q
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xls, sheet 1
  • Table_1.xls, sheet 4
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: PARP2: R283Q; rs3093926
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Journal Of Medical Genetics
Codina-Sola, Marta M; Costa-Roger, Mar M; Pérez-García, Debora D; Flores, Raquel R; Palacios-Verdú, Maria Gabriela MG; Cusco, Ivon I; Pérez-Jurado, Luis Alberto LA
Publication Date: 2019-12

Variant appearance in text: rs3093926
PubMed Link: 31413120
Variant Present in the following documents:
  • jmedgenet-2019-106080supp001.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: PARP2: R283Q; rs3093926
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3093926
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: PARP2: R283Q; rs3093926
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Understanding specific functions of PARP-2: new lessons for cancer therapy.

American Journal Of Cancer Research
Ali, Syed O SO; Khan, Farhaan A FA; Galindo-Campos, Miguel A MA; Yélamos, José J
Publication Date: 2016

Variant appearance in text: rs3093926
PubMed Link: 27725894
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: PARP2: R283Q; rs3093926
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs3093926
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Functionally defined therapeutic targets in diffuse intrinsic pontine glioma.

Nature Medicine
Grasso, Catherine S CS; Tang, Yujie Y; Truffaux, Nathalene N; Berlow, Noah E NE; Liu, Lining L; Debily, Marie-Anne MA; Quist, Michael J MJ; Davis, Lara E LE; Huang, Elaine C EC; Woo, Pamelyn J PJ; Ponnuswami, Anitha A; Chen, Spenser S; Johung, Tessa B TB; Sun, Wenchao W; Kogiso, Mari M; Du, Yuchen Y; Qi, Lin L; Huang, Yulun Y; Hütt-Cabezas, Marianne M; Warren, Katherine E KE; Le Dret, Ludivine L; Meltzer, Paul S PS; Mao, Hua H; Quezado, Martha M; van Vuurden, Dannis G DG; Abraham, Jinu J; Fouladi, Maryam M; Svalina, Matthew N MN; Wang, Nicholas N; Hawkins, Cynthia C; Nazarian, Javad J; Alonso, Marta M MM; Raabe, Eric H EH; Hulleman, Esther E; Spellman, Paul T PT; Li, Xiao-Nan XN; Keller, Charles C; Pal, Ranadip R; Grill, Jacques J; Monje, Michelle M
Publication Date: 2015-06

Variant appearance in text: rs3093926
PubMed Link: 25939062
Variant Present in the following documents:
  • NIHMS680468-supplement-3.xlsx, sheet 3
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PARP2: R283Q; rs3093926
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Mutational landscape of candidate genes in familial prostate cancer.

The Prostate
Johnson, Anna M AM; Zuhlke, Kimberly A KA; Plotts, Chris C; McDonnell, Shannon K SK; Middha, Sumit S; Riska, Shaun M SM; Schaid, Daniel J DJ; Thibodeau, Stephen N SN; Douglas, Julie A JA; Cooney, Kathleen A KA
Publication Date: 2014-10

Variant appearance in text: PARP2: Arg283Gln; rs3093926
PubMed Link: 25111073
Variant Present in the following documents:
  • Main text
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: rs3093926
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.

Plos Genetics
Osorio, Ana A; Milne, Roger L RL; Kuchenbaecker, Karoline K; Vaclová, Tereza T; Pita, Guillermo G; Alonso, Rosario R; Peterlongo, Paolo P; Blanco, Ignacio I; de la Hoya, Miguel M; Duran, Mercedes M; Díez, Orland O; Ramón Y Cajal, Teresa T; Konstantopoulou, Irene I; Martínez-Bouzas, Cristina C; Andrés Conejero, Raquel R; Soucy, Penny P; McGuffog, Lesley L; Barrowdale, Daniel D; Lee, Andrew A; , ; Arver, Brita B; Rantala, Johanna J; Loman, Niklas N; Ehrencrona, Hans H; Olopade, Olufunmilayo I OI; Beattie, Mary S MS; Domchek, Susan M SM; Nathanson, Katherine K; Rebbeck, Timothy R TR; Arun, Banu K BK; Karlan, Beth Y BY; Walsh, Christine C; Lester, Jenny J; John, Esther M EM; Whittemore, Alice S AS; Daly, Mary B MB; Southey, Melissa M; Hopper, John J; Terry, Mary B MB; Buys, Saundra S SS; Janavicius, Ramunas R; Dorfling, Cecilia M CM; van Rensburg, Elizabeth J EJ; Steele, Linda L; Neuhausen, Susan L SL; Ding, Yuan Chun YC; Hansen, Thomas V O TV; Jønson, Lars L; Ejlertsen, Bent B; Gerdes, Anne-Marie AM; Infante, Mar M; Herráez, Belén B; Moreno, Leticia Thais LT; Weitzel, Jeffrey N JN; Herzog, Josef J; Weeman, Kisa K; Manoukian, Siranoush S; Peissel, Bernard B; Zaffaroni, Daniela D; Scuvera, Giulietta G; Bonanni, Bernardo B; Mariette, Frederique F; Volorio, Sara S; Viel, Alessandra A; Varesco, Liliana L; Papi, Laura L; Ottini, Laura L; Tibiletti, Maria Grazia MG; Radice, Paolo P; Yannoukakos, Drakoulis D; Garber, Judy J; Ellis, Steve S; Frost, Debra D; Platte, Radka R; Fineberg, Elena E; Evans, Gareth G; Lalloo, Fiona F; Izatt, Louise L; Eeles, Ros R; Adlard, Julian J; Davidson, Rosemarie R; Cole, Trevor T; Eccles, Diana D; Cook, Jackie J; Hodgson, Shirley S; Brewer, Carole C; Tischkowitz, Marc M; Douglas, Fiona F; Porteous, Mary M; Side, Lucy L; Walker, Lisa L; Morrison, Patrick P; Donaldson, Alan A; Kennedy, John J; Foo, Claire C; Godwin, Andrew K AK; Schmutzler, Rita Katharina RK; Wappenschmidt, Barbara B; Rhiem, Kerstin K; Engel, Christoph C; Meindl, Alfons A; Ditsch, Nina N; Arnold, Norbert N; Plendl, Hans Jörg HJ; Niederacher, Dieter D; Sutter, Christian C; Wang-Gohrke, Shan S; Steinemann, Doris D; Preisler-Adams, Sabine S; Kast, Karin K; Varon-Mateeva, Raymonda R; Gehrig, Andrea A; Stoppa-Lyonnet, Dominique D; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Damiola, Francesca F; Poppe, Bruce B; Claes, Kathleen K; Piedmonte, Marion M; Tucker, Kathy K; Backes, Floor F; Rodríguez, Gustavo G; Brewster, Wendy W; Wakeley, Katie K; Rutherford, Thomas T; Caldés, Trinidad T; Nevanlinna, Heli H; Aittomäki, Kristiina K; Rookus, Matti A MA; van Os, Theo A M TA; van der Kolk, Lizet L; de Lange, J L JL; Meijers-Heijboer, Hanne E J HE; van der Hout, A H AH; van Asperen, Christi J CJ; Gómez Garcia, Encarna B EB; Hoogerbrugge, Nicoline N; Collée, J Margriet JM; van Deurzen, Carolien H M CH; van der Luijt, Rob B RB; Devilee, Peter P; , ; Olah, Edith E; Lázaro, Conxi C; Teulé, Alex A; Menéndez, Mireia M; Jakubowska, Anna A; Cybulski, Cezary C; Gronwald, Jacek J; Lubinski, Jan J; Durda, Katarzyna K; Jaworska-Bieniek, Katarzyna K; Johannsson, Oskar Th OT; Maugard, Christine C; Montagna, Marco M; Tognazzo, Silvia S; Teixeira, Manuel R MR; Healey, Sue S; , ; Olswold, Curtis C; Guidugli, Lucia L; Lindor, Noralane N; Slager, Susan S; Szabo, Csilla I CI; Vijai, Joseph J; Robson, Mark M; Kauff, Noah N; Zhang, Liying L; Rau-Murthy, Rohini R; Fink-Retter, Anneliese A; Singer, Christian F CF; Rappaport, Christine C; Geschwantler Kaulich, Daphne D; Pfeiler, Georg G; Tea, Muy-Kheng MK; Berger, Andreas A; Phelan, Catherine M CM; Greene, Mark H MH; Mai, Phuong L PL; Lejbkowicz, Flavio F; Andrulis, Irene I; Mulligan, Anna Marie AM; Glendon, Gord G; Toland, Amanda Ewart AE; Bojesen, Anders A; Pedersen, Inge Sokilde IS; Sunde, Lone L; Thomassen, Mads M; Kruse, Torben A TA; Jensen, Uffe Birk UB; Friedman, Eitan E; Laitman, Yael Y; Shimon, Shani Paluch SP; Simard, Jacques J; Easton, Douglas F DF; Offit, Kenneth K; Couch, Fergus J FJ; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Benitez, Javier J
Publication Date: 2014-04

Variant appearance in text: rs3093926
PubMed Link: 24698998
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Zee, Robert Y L RY; Ridker, Paul M PM; Chasman, Daniel I DI
Publication Date: 2011-01-14

Variant appearance in text: rs3093926
PubMed Link: 20937264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide survey of allele-specific splicing in humans.

Bmc Genomics
Nembaware, Victoria V; Lupindo, Bukiwe B; Schouest, Katherine K; Spillane, Charles C; Scheffler, Konrad K; Seoighe, Cathal C
Publication Date: 2008-06-02

Variant appearance in text: rs3093926
PubMed Link: 18518984
Variant Present in the following documents:
  • Main text
  • 1471-2164-9-265.pdf
View BVdb publication page