CRTC2 c.373-260G>C

Variant ID: 1-153927052-C-G

NM_181715.2(CRTC2):c.373-260G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs10908557
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs10908557
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Age at first birth and lung cancer: a two-sample Mendelian randomization study.

Translational Lung Cancer Research
Peng, Haoxin H; Wu, Xiangrong X; Wen, Yaokai Y; Du, Xiaoqin X; Li, Caichen C; Liang, Hengrui H; Lin, Jinsheng J; Liu, Jun J; Ge, Fan F; Huo, Zhenyu Z; He, Jianxing J; Liang, Wenhua W
Publication Date: 2021-04

Variant appearance in text: rs10908557
PubMed Link: 34012788
Variant Present in the following documents:
  • Main text
  • tlcr-10-04-1720.pdf
View BVdb publication page



Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

Nature Genetics
Barban, Nicola N; Jansen, Rick R; de Vlaming, Ronald R; Vaez, Ahmad A; Mandemakers, Jornt J JJ; Tropf, Felix C FC; Shen, Xia X; Wilson, James F JF; Chasman, Daniel I DI; Nolte, Ilja M IM; Tragante, Vinicius V; van der Laan, Sander W SW; Perry, John R B JR; Kong, Augustine A; , ; Ahluwalia, Tarunveer S TS; Albrecht, Eva E; Yerges-Armstrong, Laura L; Atzmon, Gil G; Auro, Kirsi K; Ayers, Kristin K; Bakshi, Andrew A; Ben-Avraham, Danny D; Berger, Klaus K; Bergman, Aviv A; Bertram, Lars L; Bielak, Lawrence F LF; Bjornsdottir, Gyda G; Bonder, Marc Jan MJ; Broer, Linda L; Bui, Minh M; Barbieri, Caterina C; Cavadino, Alana A; Chavarro, Jorge E JE; Turman, Constance C; Concas, Maria Pina MP; Cordell, Heather J HJ; Davies, Gail G; Eibich, Peter P; Eriksson, Nicholas N; Esko, Tõnu T; Eriksson, Joel J; Falahi, Fahimeh F; Felix, Janine F JF; Fontana, Mark Alan MA; Franke, Lude L; Gandin, Ilaria I; Gaskins, Audrey J AJ; Gieger, Christian C; Gunderson, Erica P EP; Guo, Xiuqing X; Hayward, Caroline C; He, Chunyan C; Hofer, Edith E; Huang, Hongyan H; Joshi, Peter K PK; Kanoni, Stavroula S; Karlsson, Robert R; Kiechl, Stefan S; Kifley, Annette A; Kluttig, Alexander A; Kraft, Peter P; Lagou, Vasiliki V; Lecoeur, Cecile C; Lahti, Jari J; Li-Gao, Ruifang R; Lind, Penelope A PA; Liu, Tian T; Makalic, Enes E; Mamasoula, Crysovalanto C; Matteson, Lindsay L; Mbarek, Hamdi H; McArdle, Patrick F PF; McMahon, George G; Meddens, S Fleur W SF; Mihailov, Evelin E; Miller, Mike M; Missmer, Stacey A SA; Monnereau, Claire C; van der Most, Peter J PJ; Myhre, Ronny R; Nalls, Mike A MA; Nutile, Teresa T; Kalafati, Ioanna Panagiota IP; Porcu, Eleonora E; Prokopenko, Inga I; Rajan, Kumar B KB; Rich-Edwards, Janet J; Rietveld, Cornelius A CA; Robino, Antonietta A; Rose, Lynda M LM; Rueedi, Rico R; Ryan, Kathleen A KA; Saba, Yasaman Y; Schmidt, Daniel D; Smith, Jennifer A JA; Stolk, Lisette L; Streeten, Elizabeth E; Tönjes, Anke A; Thorleifsson, Gudmar G; Ulivi, Sheila S; Wedenoja, Juho J; Wellmann, Juergen J; Willeit, Peter P; Yao, Jie J; Yengo, Loic L; Zhao, Jing Hua JH; Zhao, Wei W; Zhernakova, Daria V DV; Amin, Najaf N; Andrews, Howard H; Balkau, Beverley B; Barzilai, Nir N; Bergmann, Sven S; Biino, Ginevra G; Bisgaard, Hans H; Bønnelykke, Klaus K; Boomsma, Dorret I DI; Buring, Julie E JE; Campbell, Harry H; Cappellani, Stefania S; Ciullo, Marina M; Cox, Simon R SR; Cucca, Francesco F; Toniolo, Daniela D; Davey-Smith, George G; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; van Duijn, Cornelia M CM; de Geus, Eco J C EJ; Eriksson, Johan G JG; Evans, Denis A DA; Faul, Jessica D JD; Sala, Cinzia Felicita CF; Froguel, Philippe P; Gasparini, Paolo P; Girotto, Giorgia G; Grabe, Hans-Jörgen HJ; Greiser, Karin Halina KH; Groenen, Patrick J F PJ; de Haan, Hugoline G HG; Haerting, Johannes J; Harris, Tamara B TB; Heath, Andrew C AC; Heikkilä, Kauko K; Hofman, Albert A; Homuth, Georg G; Holliday, Elizabeth G EG; Hopper, John J; Hyppönen, Elina E; Jacobsson, Bo B; Jaddoe, Vincent W V VW; Johannesson, Magnus M; Jugessur, Astanand A; Kähönen, Mika M; Kajantie, Eero E; Kardia, Sharon L R SL; Keavney, Bernard B; Kolcic, Ivana I; Koponen, Päivikki P; Kovacs, Peter P; Kronenberg, Florian F; Kutalik, Zoltan Z; La Bianca, Martina M; Lachance, Genevieve G; Iacono, William G WG; Lai, Sandra S; Lehtimäki, Terho T; Liewald, David C DC; , ; Lindgren, Cecilia M CM; Liu, Yongmei Y; Luben, Robert R; Lucht, Michael M; Luoto, Riitta R; Magnus, Per P; Magnusson, Patrik K E PK; Martin, Nicholas G NG; McGue, Matt M; McQuillan, Ruth R; Medland, Sarah E SE; Meisinger, Christa C; Mellström, Dan D; Metspalu, Andres A; Traglia, Michela M; Milani, Lili L; Mitchell, Paul P; Montgomery, Grant W GW; Mook-Kanamori, Dennis D; de Mutsert, Renée R; Nohr, Ellen A EA; Ohlsson, Claes C; Olsen, Jørn J; Ong, Ken K KK; Paternoster, Lavinia L; Pattie, Alison A; Penninx, Brenda W J H BW; Perola, Markus M; Peyser, Patricia A PA; Pirastu, Mario M; Polasek, Ozren O; Power, Chris C; Kaprio, Jaakko J; Raffel, Leslie J LJ; Räikkönen, Katri K; Raitakari, Olli O; Ridker, Paul M PM; Ring, Susan M SM; Roll, Kathryn K; Rudan, Igor I; Ruggiero, Daniela D; Rujescu, Dan D; Salomaa, Veikko V; Schlessinger, David D; Schmidt, Helena H; Schmidt, Reinhold R; Schupf, Nicole N; Smit, Johannes J; Sorice, Rossella R; Spector, Tim D TD; Starr, John M JM; Stöckl, Doris D; Strauch, Konstantin K; Stumvoll, Michael M; Swertz, Morris A MA; Thorsteinsdottir, Unnur U; Thurik, A Roy AR; Timpson, Nicholas J NJ; Tung, Joyce Y JY; Uitterlinden, André G AG; Vaccargiu, Simona S; Viikari, Jorma J; Vitart, Veronique V; Völzke, Henry H; Vollenweider, Peter P; Vuckovic, Dragana D; Waage, Johannes J; Wagner, Gert G GG; Wang, Jie Jin JJ; Wareham, Nicholas J NJ; Weir, David R DR; Willemsen, Gonneke G; Willeit, Johann J; Wright, Alan F AF; Zondervan, Krina T KT; Stefansson, Kari K; Krueger, Robert F RF; Lee, James J JJ; Benjamin, Daniel J DJ; Cesarini, David D; Koellinger, Philipp D PD; den Hoed, Marcel M; Snieder, Harold H; Mills, Melinda C MC
Publication Date: 2016-12

Variant appearance in text: rs10908557
PubMed Link: 27798627
Variant Present in the following documents:
  • Main text
View BVdb publication page