EXO1 c.836A>G ;(p.N279S)

Variant ID: 1-242023898-A-G

NM_130398.3(EXO1):c.836A>G;(p.N279S)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients.

Frontiers In Oncology
Zhu, Liling L; Liu, Ke K; Bao, Baoshi B; Li, Fengyun F; Liang, Wentao W; Jiang, Zhaoyun Z; Hao, Xiaopeng X; Wang, Jiandong J
Publication Date: 2023

Variant appearance in text: EXO1: Asn279Ser; rs4149909
PubMed Link: 37152050
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.

Nature Communications
Sliz, Eeva E; Tyrmi, Jaakko S JS; Rahmioglu, Nilufer N; Zondervan, Krina T KT; Becker, Christian M CM; , ; Uimari, Outi O; Kettunen, Johannes J
Publication Date: 2023-02-01

Variant appearance in text: rs4149909
PubMed Link: 36726022
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_35974.pdf
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: EXO1: N279S
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 7
View BVdb publication page



Breast cancer-associated SNP rs72755295 is a cis-regulatory variation for human EXO1.

Genetics And Molecular Biology
Shi, Qiang Q; Yao, Xing-Yuan XY; Wang, Hong-Yan HY; Li, Ya-Jie YJ; Zhang, Xin-Xin XX; Sun, Chang C
Publication Date: 2022

Variant appearance in text: EXO1: Asn279Ser; rs4149909
PubMed Link: 36255267
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-45-4-e20210420.pdf
View BVdb publication page



Exonucleases: Degrading DNA to Deal with Genome Damage, Cell Death, Inflammation and Cancer.

Cells
Manils, Joan J; Marruecos, Laura L; Soler, Concepció C
Publication Date: 2022-07-09

Variant appearance in text: EXO1: N279S
PubMed Link: 35883600
Variant Present in the following documents:
  • Main text
  • cells-11-02157.pdf
View BVdb publication page



Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Publication Date: 2020-12

Variant appearance in text: rs4149909
PubMed Link: 33230300
Variant Present in the following documents:
  • Main text
  • EMS118016-supplement-Supplementary_Information.pdf
View BVdb publication page



Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Nature Genetics
Fachal, Laura L; Aschard, Hugues H; Beesley, Jonathan J; Barnes, Daniel R DR; Allen, Jamie J; Kar, Siddhartha S; Pooley, Karen A KA; Dennis, Joe J; Michailidou, Kyriaki K; Turman, Constance C; Soucy, Penny P; Lemaçon, Audrey A; Lush, Michael M; Tyrer, Jonathan P JP; Ghoussaini, Maya M; Moradi Marjaneh, Mahdi M; Jiang, Xia X; Agata, Simona S; Aittomäki, Kristiina K; Alonso, M Rosario MR; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antonenkova, Natalia N NN; Arason, Adalgeir A; Arndt, Volker V; Aronson, Kristan J KJ; Arun, Banu K BK; Auber, Bernd B; Auer, Paul L PL; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Barrowdale, Daniel D; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bermisheva, Marina M; Białkowska, Katarzyna K; Blanco, Amie M AM; Blomqvist, Carl C; Blot, William W; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bonanni, Bernardo B; Borg, Ake A; Bosse, Kristin K; Brauch, Hiltrud H; Brenner, Hermann H; Briceno, Ignacio I; Brock, Ian W IW; Brooks-Wilson, Angela A; Brüning, Thomas T; Burwinkel, Barbara B; Buys, Saundra S SS; Cai, Qiuyin Q; Caldés, Trinidad T; Caligo, Maria A MA; Camp, Nicola J NJ; Campbell, Ian I; Canzian, Federico F; Carroll, Jason S JS; Carter, Brian D BD; Castelao, Jose E JE; Chiquette, Jocelyne J; Christiansen, Hans H; Chung, Wendy K WK; Claes, Kathleen B M KBM; Clarke, Christine L CL; , ; , ; Collée, J Margriet JM; Cornelissen, Sten S; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Cybulski, Cezary C; Czene, Kamila K; Daly, Mary B MB; de la Hoya, Miguel M; Devilee, Peter P; Diez, Orland O; Ding, Yuan Chun YC; Dite, Gillian S GS; Domchek, Susan M SM; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Droit, Arnaud A; Dubois, Stéphane S; Dumont, Martine M; Duran, Mercedes M; Durcan, Lorraine L; Dwek, Miriam M; Eccles, Diana M DM; Engel, Christoph C; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Fletcher, Olivia O; Floris, Giuseppe G; Flyger, Henrik H; Foretova, Lenka L; Foulkes, William D WD; Friedman, Eitan E; Fritschi, Lin L; Frost, Debra D; Gabrielson, Marike M; Gago-Dominguez, Manuela M; Gambino, Gaetana G; Ganz, Patricia A PA; Gapstur, Susan M SM; Garber, Judy J; García-Sáenz, José A JA; Gaudet, Mia M MM; Georgoulias, Vassilios V; Giles, Graham G GG; Glendon, Gord G; Godwin, Andrew K AK; Goldberg, Mark S MS; Goldgar, David E DE; González-Neira, Anna A; Tibiletti, Maria Grazia MG; Greene, Mark H MH; Grip, Mervi M; Gronwald, Jacek J; Grundy, Anne A; Guénel, Pascal P; Hahnen, Eric E; Haiman, Christopher A CA; Håkansson, Niclas N; Hall, Per P; Hamann, Ute U; Harrington, Patricia A PA; Hartikainen, Jaana M JM; Hartman, Mikael M; He, Wei W; Healey, Catherine S CS; Heemskerk-Gerritsen, Bernadette A M BAM; Heyworth, Jane J; Hillemanns, Peter P; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Hopper, John L JL; Howell, Anthony A; Huang, Guanmengqian G; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Iwasaki, Motoki M; Jager, Agnes A; Jakimovska, Milena M; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; Jankowitz, Rachel C RC; John, Esther M EM; Johnson, Nichola N; Jones, Michael E ME; Jukkola-Vuorinen, Arja A; Jung, Audrey A; Kaaks, Rudolf R; Kang, Daehee D; Kapoor, Pooja Middha PM; Karlan, Beth Y BY; Keeman, Renske R; Kerin, Michael J MJ; Khusnutdinova, Elza E; Kiiski, Johanna I JI; Kirk, Judy J; Kitahara, Cari M CM; Ko, Yon-Dschun YD; Konstantopoulou, Irene I; Kosma, Veli-Matti VM; Koutros, Stella S; Kubelka-Sabit, Katerina K; Kwong, Ava A; Kyriacou, Kyriacos K; Laitman, Yael Y; Lambrechts, Diether D; Lee, Eunjung E; Leslie, Goska G; Lester, Jenny J; Lesueur, Fabienne F; Lindblom, Annika A; Lo, Wing-Yee WY; Long, Jirong J; Lophatananon, Artitaya A; Loud, Jennifer T JT; Lubiński, Jan J; MacInnis, Robert J RJ; Maishman, Tom T; Makalic, Enes E; Mannermaa, Arto A; Manoochehri, Mehdi M; Manoukian, Siranoush S; Margolin, Sara S; Martinez, Maria Elena ME; Matsuo, Keitaro K; Maurer, Tabea T; Mavroudis, Dimitrios D; Mayes, Rebecca R; McGuffog, Lesley L; McLean, Catriona C; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Miller, Nicola N; Montagna, Marco M; Moreno, Fernando F; Muir, Kenneth K; Mulligan, Anna Marie AM; Muñoz-Garzon, Victor M VM; Muranen, Taru A TA; Narod, Steven A SA; Nassir, Rami R; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Neven, Patrick P; Nielsen, Finn C FC; Nikitina-Zake, Liene L; Norman, Aaron A; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Olsson, Håkan H; Orr, Nick N; Osorio, Ana A; Pankratz, V Shane VS; Papp, Janos J; Park, Sue K SK; Park-Simon, Tjoung-Won TW; Parsons, Michael T MT; Paul, James J; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Peshkin, Beth B; Peterlongo, Paolo P; Peto, Julian J; Plaseska-Karanfilska, Dijana D; Prajzendanc, Karolina K; Prentice, Ross R; Presneau, Nadege N; Prokofyeva, Darya D; Pujana, Miquel Angel MA; Pylkäs, Katri K; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Rau-Murthy, Rohini R; Rennert, Gad G; Risch, Harvey A HA; Robson, Mark M; Romero, Atocha A; Rossing, Maria M; Saloustros, Emmanouil E; Sánchez-Herrero, Estela E; Sandler, Dale P DP; Santamariña, Marta M; Saunders, Christobel C; Sawyer, Elinor J EJ; Scheuner, Maren T MT; Schmidt, Daniel F DF; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; Schöttker, Ben B; Schürmann, Peter P; Scott, Christopher C; Scott, Rodney J RJ; Senter, Leigha L; Seynaeve, Caroline M CM; Shah, Mitul M; Sharma, Priyanka P; Shen, Chen-Yang CY; Shu, Xiao-Ou XO; Singer, Christian F CF; Slavin, Thomas P TP; Smichkoska, Snezhana S; Southey, Melissa C MC; Spinelli, John J JJ; Spurdle, Amanda B AB; Stone, Jennifer J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Swerdlow, Anthony J AJ; Tamimi, Rulla M RM; Tan, Yen Yen YY; Tapper, William J WJ; Taylor, Jack A JA; Teixeira, Manuel R MR; Tengström, Maria M; Teo, Soo Hwang SH; Terry, Mary Beth MB; Teulé, Alex A; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Tollenaar, Rob A E M RAEM; Tomlinson, Ian I; Torres, Diana D; Torres-Mejía, Gabriela G; Troester, Melissa A MA; Truong, Thérèse T; Tung, Nadine N; Tzardi, Maria M; Ulmer, Hans-Ulrich HU; Vachon, Celine M CM; van Asperen, Christi J CJ; van der Kolk, Lizet E LE; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Vijai, Joseph J; Vogel, Maartje J MJ; Wang, Qin Q; Wappenschmidt, Barbara B; Weinberg, Clarice R CR; Weitzel, Jeffrey N JN; Wendt, Camilla C; Wildiers, Hans H; Winqvist, Robert R; Wolk, Alicja A; Wu, Anna H AH; Yannoukakos, Drakoulis D; Zhang, Yan Y; Zheng, Wei W; Hunter, David D; Pharoah, Paul D P PDP; Chang-Claude, Jenny J; García-Closas, Montserrat M; Schmidt, Marjanka K MK; Milne, Roger L RL; Kristensen, Vessela N VN; French, Juliet D JD; Edwards, Stacey L SL; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Simard, Jacques J; Easton, Douglas F DF; Kraft, Peter P; Dunning, Alison M AM
Publication Date: 2020-01

Variant appearance in text: EXO1: 836A>G; rs4149909
PubMed Link: 31911677
Variant Present in the following documents:
  • EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 4
  • EMS84721-supplement-Supplementary_Table_5.xlsx, sheet 3
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: EXO1: N279S; rs4149909
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Human Molecular Genetics
Liyanage, Upekha E UE; Law, Matthew H MH; Han, Xikun X; An, Jiyuan J; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Gordon, Scott S; Neale, Rachel E RE; Olsen, Catherine M CM; , ; MacGregor, Stuart S; Whiteman, David C DC
Publication Date: 2019-09-15

Variant appearance in text: rs4149909
PubMed Link: 31174203
Variant Present in the following documents:
  • Main text
  • ddz121.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: EXO1: N279S; rs4149909
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: EXO1: N279S
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Human Exonuclease 1 (EXO1) Regulatory Functions in DNA Replication with Putative Roles in Cancer.

International Journal Of Molecular Sciences
Keijzers, Guido G; Bakula, Daniela D; Petr, Michael Angelo MA; Madsen, Nils Gedsig Kirkelund NGK; Teklu, Amanuel A; Mkrtchyan, Garik G; Osborne, Brenna B; Scheibye-Knudsen, Morten M
Publication Date: 2018-12-25

Variant appearance in text: EXO1: 836A>G; N279S; rs4149909
PubMed Link: 30585186
Variant Present in the following documents:
  • Main text
  • ijms-20-00074.pdf
View BVdb publication page



Significant association of the EXO1 rs851797 polymorphism with clinical outcome of ovarian cancer.

Oncotargets And Therapy
Shi, Tingyan T; Jiang, Rong R; Wang, Pan P; Xu, Yuan Y; Yin, Sheng S; Cheng, Xi X; Zang, Rongyu R
Publication Date: 2017

Variant appearance in text: EXO1: N279S
PubMed Link: 29042795
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA-damage-induced degradation of EXO1 exonuclease limits DNA end resection to ensure accurate DNA repair.

The Journal Of Biological Chemistry
Tomimatsu, Nozomi N; Mukherjee, Bipasha B; Harris, Janelle Louise JL; Boffo, Francesca Ludovica FL; Hardebeck, Molly Catherine MC; Potts, Patrick Ryan PR; Khanna, Kum Kum KK; Burma, Sandeep S
Publication Date: 2017-06-30

Variant appearance in text: EXO1: N279S; rs4149909
PubMed Link: 28515316
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: EXO1: N279S; rs4149909
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: EXO1: 836A>G; rs4149909
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Whole-exome sequencing of Finnish hereditary breast cancer families.

European Journal Of Human Genetics : Ejhg
Määttä, Kirsi K; Rantapero, Tommi T; Lindström, Anna A; Nykter, Matti M; Kankuri-Tammilehto, Minna M; Laasanen, Satu-Leena SL; Schleutker, Johanna J
Publication Date: 2016-01

Variant appearance in text: EXO1: 836A>G; N279S
PubMed Link: 27782108
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Cancer Medicine
Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ
Publication Date: 2016-05

Variant appearance in text: EXO1: 836A>G; Asn279Ser; rs4149909
PubMed Link: 26811195
Variant Present in the following documents:
  • Main text
  • CAM4-5-929.pdf
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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: rs4149909
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: EXO1: N279S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: EXO1: N279S; rs4149909
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 7
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: EXO1: N279S; rs4149909
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Nature Genetics
Michailidou, Kyriaki K; Beesley, Jonathan J; Lindstrom, Sara S; Canisius, Sander S; Dennis, Joe J; Lush, Michael J MJ; Maranian, Mel J MJ; Bolla, Manjeet K MK; Wang, Qin Q; Shah, Mitul M; Perkins, Barbara J BJ; Czene, Kamila K; Eriksson, Mikael M; Darabi, Hatef H; Brand, Judith S JS; Bojesen, Stig E SE; Nordestgaard, Børge G BG; Flyger, Henrik H; Nielsen, Sune F SF; Rahman, Nazneen N; Turnbull, Clare C; , ; Fletcher, Olivia O; Peto, Julian J; Gibson, Lorna L; dos-Santos-Silva, Isabel I; Chang-Claude, Jenny J; Flesch-Janys, Dieter D; Rudolph, Anja A; Eilber, Ursula U; Behrens, Sabine S; Nevanlinna, Heli H; Muranen, Taru A TA; Aittomäki, Kristiina K; Blomqvist, Carl C; Khan, Sofia S; Aaltonen, Kirsimari K; Ahsan, Habibul H; Kibriya, Muhammad G MG; Whittemore, Alice S AS; John, Esther M EM; Malone, Kathleen E KE; Gammon, Marilie D MD; Santella, Regina M RM; Ursin, Giske G; Makalic, Enes E; Schmidt, Daniel F DF; Casey, Graham G; Hunter, David J DJ; Gapstur, Susan M SM; Gaudet, Mia M MM; Diver, W Ryan WR; Haiman, Christopher A CA; Schumacher, Fredrick F; Henderson, Brian E BE; Le Marchand, Loic L; Berg, Christine D CD; Chanock, Stephen J SJ; Figueroa, Jonine J; Hoover, Robert N RN; Lambrechts, Diether D; Neven, Patrick P; Wildiers, Hans H; van Limbergen, Erik E; Schmidt, Marjanka K MK; Broeks, Annegien A; Verhoef, Senno S; Cornelissen, Sten S; Couch, Fergus J FJ; Olson, Janet E JE; Hallberg, Emily E; Vachon, Celine C; Waisfisz, Quinten Q; Meijers-Heijboer, Hanne H; Adank, Muriel A MA; van der Luijt, Rob B RB; Li, Jingmei J; Liu, Jianjun J; Humphreys, Keith K; Kang, Daehee D; Choi, Ji-Yeob JY; Park, Sue K SK; Yoo, Keun-Young KY; Matsuo, Keitaro K; Ito, Hidemi H; Iwata, Hiroji H; Tajima, Kazuo K; Guénel, Pascal P; Truong, Thérèse T; Mulot, Claire C; Sanchez, Marie M; Burwinkel, Barbara B; Marme, Frederik F; Surowy, Harald H; Sohn, Christof C; Wu, Anna H AH; Tseng, Chiu-chen CC; Van Den Berg, David D; Stram, Daniel O DO; González-Neira, Anna A; Benitez, Javier J; Zamora, M Pilar MP; Perez, Jose Ignacio Arias JI; Shu, Xiao-Ou XO; Lu, Wei W; Gao, Yu-Tang YT; Cai, Hui H; Cox, Angela A; Cross, Simon S SS; Reed, Malcolm W R MW; Andrulis, Irene L IL; Knight, Julia A JA; Glendon, Gord G; Mulligan, Anna Marie AM; Sawyer, Elinor J EJ; Tomlinson, Ian I; Kerin, Michael J MJ; Miller, Nicola N; , ; , ; Lindblom, Annika A; Margolin, Sara S; Teo, Soo Hwang SH; Yip, Cheng Har CH; Taib, Nur Aishah Mohd NA; Tan, Gie-Hooi GH; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Martens, John W M JW; Collée, J Margriet JM; Blot, William W; Signorello, Lisa B LB; Cai, Qiuyin Q; Hopper, John L JL; Southey, Melissa C MC; Tsimiklis, Helen H; Apicella, Carmel C; Shen, Chen-Yang CY; Hsiung, Chia-Ni CN; Wu, Pei-Ei PE; Hou, Ming-Feng MF; Kristensen, Vessela N VN; Nord, Silje S; Alnaes, Grethe I Grenaker GI; , ; Giles, Graham G GG; Milne, Roger L RL; McLean, Catriona C; Canzian, Federico F; Trichopoulos, Dimitrios D; Peeters, Petra P; Lund, Eiliv E; Sund, Malin M; Khaw, Kay-Tee KT; Gunter, Marc J MJ; Palli, Domenico D; Mortensen, Lotte Maxild LM; Dossus, Laure L; Huerta, Jose-Maria JM; Meindl, Alfons A; Schmutzler, Rita K RK; Sutter, Christian C; Yang, Rongxi R; Muir, Kenneth K; Lophatananon, Artitaya A; Stewart-Brown, Sarah S; Siriwanarangsan, Pornthep P; Hartman, Mikael M; Miao, Hui H; Chia, Kee Seng KS; Chan, Ching Wan CW; Fasching, Peter A PA; Hein, Alexander A; Beckmann, Matthias W MW; Haeberle, Lothar L; Brenner, Hermann H; Dieffenbach, Aida Karina AK; Arndt, Volker V; Stegmaier, Christa C; Ashworth, Alan A; Orr, Nick N; Schoemaker, Minouk J MJ; Swerdlow, Anthony J AJ; Brinton, Louise L; Garcia-Closas, Montserrat M; Zheng, Wei W; Halverson, Sandra L SL; Shrubsole, Martha M; Long, Jirong J; Goldberg, Mark S MS; Labrèche, France F; Dumont, Martine M; Winqvist, Robert R; Pylkäs, Katri K; Jukkola-Vuorinen, Arja A; Grip, Mervi M; Brauch, Hiltrud H; Hamann, Ute U; Brüning, Thomas T; , ; Radice, Paolo P; Peterlongo, Paolo P; Manoukian, Siranoush S; Bernard, Loris L; Bogdanova, Natalia V NV; Dörk, Thilo T; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Devilee, Peter P; Tollenaar, Robert A E M RA; Seynaeve, Caroline C; Van Asperen, Christi J CJ; Jakubowska, Anna A; Lubinski, Jan J; Jaworska, Katarzyna K; Huzarski, Tomasz T; Sangrajrang, Suleeporn S; Gaborieau, Valerie V; Brennan, Paul P; McKay, James J; Slager, Susan S; Toland, Amanda E AE; Ambrosone, Christine B CB; Yannoukakos, Drakoulis D; Kabisch, Maria M; Torres, Diana D; Neuhausen, Susan L SL; Anton-Culver, Hoda H; Luccarini, Craig C; Baynes, Caroline C; Ahmed, Shahana S; Healey, Catherine S CS; Tessier, Daniel C DC; Vincent, Daniel D; Bacot, Francois F; Pita, Guillermo G; Alonso, M Rosario MR; Álvarez, Nuria N; Herrero, Daniel D; Simard, Jacques J; Pharoah, Paul P D P PP; Kraft, Peter P; Dunning, Alison M AM; Chenevix-Trench, Georgia G; Hall, Per P; Easton, Douglas F DF
Publication Date: 2015-04

Variant appearance in text: rs4149909
PubMed Link: 25751625
Variant Present in the following documents:
  • Main text
  • NIHMS664248-supplement-1.pdf
  • nihms664248.pdf
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: EXO1: N279S; rs4149909
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: EXO1: N279S; rs4149909
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page