EXO1 c.836A>T ;(p.N279I)

Variant ID: 1-242023898-A-T

NM_130398.3(EXO1):c.836A>T;(p.N279I)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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
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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



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: rs4149909
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
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: rs4149909
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: 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: 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:
  • NIHMS664248-supplement-1.pdf
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: rs4149909
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page