SORCS2 c.480+25080T>A

Variant ID: 4-7219933-T-A

NM_020777.2(SORCS2):c.480+25080T>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4234798
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs4234798
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
View BVdb publication page



LAMA4-Regulating miR-4274 and Its Host Gene SORCS2 Play a Role in IGFBP6-Dependent Effects on Phenotype of Basal-Like Breast Cancer.

Frontiers In Molecular Biosciences
Shkurnikov, Maxim M; Nikulin, Sergey S; Nersisyan, Stepan S; Poloznikov, Andrey A; Zaidi, Shan S; Baranova, Ancha A; Schumacher, Udo U; Wicklein, Daniel D; Tonevitsky, Alexander A
Publication Date: 2019

Variant appearance in text: rs4234798
PubMed Link: 31781574
Variant Present in the following documents:
  • Main text
  • fmolb-06-00122.pdf
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Vitamin D-Related Genes, Blood Vitamin D Levels and Colorectal Cancer Risk in Western European Populations.

Nutrients
Fedirko, Veronika V; Mandle, Hannah B HB; Zhu, Wanzhe W; Hughes, David J DJ; Siddiq, Afshan A; Ferrari, Pietro P; Romieu, Isabelle I; Riboli, Elio E; Bueno-de-Mesquita, Bas B; van Duijnhoven, Fränzel J B FJB; Siersema, Peter D PD; Tjønneland, Anne A; Olsen, Anja A; Perduca, Vittorio V; Carbonnel, Franck F; Boutron-Ruault, Marie-Christine MC; Kühn, Tilman T; Johnson, Theron T; Krasimira, Aleksandrova A; Trichopoulou, Antonia A; Makrythanasis, Periklis P; Thanos, Dimitris D; Panico, Salvatore S; Krogh, Vittorio V; Sacerdote, Carlotta C; Skeie, Guri G; Weiderpass, Elisabete E; Colorado-Yohar, Sandra S; Sala, Núria N; Barricarte, Aurelio A; Sanchez, Maria-Jose MJ; Quirós, Ramón R; Amiano, Pilar P; Gylling, Björn B; Harlid, Sophia S; Perez-Cornago, Aurora A; Heath, Alicia K AK; Tsilidis, Konstantinos K KK; Aune, Dagfinn D; Freisling, Heinz H; Murphy, Neil N; Gunter, Marc J MJ; Jenab, Mazda M
Publication Date: 2019-08-20

Variant appearance in text: rs4234798
PubMed Link: 31434255
Variant Present in the following documents:
  • Main text
  • nutrients-11-01954.pdf
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Reassessing the Association between Circulating Vitamin D and IGFBP-3: Observational and Mendelian Randomization Estimates from Independent Sources.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Tan, Vanessa Y VY; Biernacka, Kalina M KM; Dudding, Tom T; Bonilla, Carolina C; Gilbert, Rebecca R; Kaplan, Robert C RC; Qibin, Qi Q; Teumer, Alexander A; Martin, Richard M RM; Perks, Claire M CM; Timpson, Nicholas J NJ; Holly, Jeff M P JMP; ,
Publication Date: 2018-12

Variant appearance in text: rs4234798
PubMed Link: 30072546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating insulin-like growth factors and Alzheimer disease: A mendelian randomization study.

Neurology
Williams, Dylan M DM; Karlsson, Ida K IK; Pedersen, Nancy L NL; Hägg, Sara S
Publication Date: 2018-01-23

Variant appearance in text: rs4234798
PubMed Link: 29282328
Variant Present in the following documents:
  • NEUROLOGY2017817544.pdf
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Genomewide meta-analysis identifies loci associated with IGF-I and IGFBP-3 levels with impact on age-related traits.

Aging Cell
Teumer, Alexander A; Qi, Qibin Q; Nethander, Maria M; Aschard, Hugues H; Bandinelli, Stefania S; Beekman, Marian M; Berndt, Sonja I SI; Bidlingmaier, Martin M; Broer, Linda L; , ; Cappola, Anne A; Ceda, Gian Paolo GP; Chanock, Stephen S; Chen, Ming-Huei MH; Chen, Tai C TC; Chen, Yii-Der Ida YD; Chung, Jonathan J; Del Greco Miglianico, Fabiola F; Eriksson, Joel J; Ferrucci, Luigi L; Friedrich, Nele N; Gnewuch, Carsten C; Goodarzi, Mark O MO; Grarup, Niels N; Guo, Tingwei T; Hammer, Elke E; Hayes, Richard B RB; Hicks, Andrew A AA; Hofman, Albert A; Houwing-Duistermaat, Jeanine J JJ; Hu, Frank F; Hunter, David J DJ; Husemoen, Lise L LL; Isaacs, Aaron A; Jacobs, Kevin B KB; Janssen, Joop A M J L JA; Jansson, John-Olov JO; Jehmlich, Nico N; Johnson, Simon S; Juul, Anders A; Karlsson, Magnus M; Kilpelainen, Tuomas O TO; Kovacs, Peter P; Kraft, Peter P; Li, Chao C; Linneberg, Allan A; Liu, Yongmei Y; Loos, Ruth J F RJ; , ; Lorentzon, Mattias M; Lu, Yingchang Y; Maggio, Marcello M; Magi, Reedik R; Meigs, James J; Mellström, Dan D; Nauck, Matthias M; Newman, Anne B AB; Pollak, Michael N MN; Pramstaller, Peter P PP; Prokopenko, Inga I; Psaty, Bruce M BM; Reincke, Martin M; Rimm, Eric B EB; Rotter, Jerome I JI; Saint Pierre, Aude A; Schurmann, Claudia C; Seshadri, Sudha S; Sjögren, Klara K; Slagboom, P Eline PE; Strickler, Howard D HD; Stumvoll, Michael M; Suh, Yousin Y; Sun, Qi Q; Zhang, Cuilin C; Svensson, Johan J; Tanaka, Toshiko T; Tare, Archana A; Tönjes, Anke A; Uh, Hae-Won HW; van Duijn, Cornelia M CM; van Heemst, Diana D; Vandenput, Liesbeth L; Vasan, Ramachandran S RS; Völker, Uwe U; Willems, Sara M SM; Ohlsson, Claes C; Wallaschofski, Henri H; Kaplan, Robert C RC
Publication Date: 2016-10

Variant appearance in text: rs4234798
PubMed Link: 27329260
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels.

International Journal Of Cancer
Bonilla, Carolina C; Lewis, Sarah J SJ; Rowlands, Mari-Anne MA; Gaunt, Tom R TR; Davey Smith, George G; Gunnell, David D; Palmer, Tom T; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Al Olama, Ali Amin AA; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; Wiklund, Fredrik F; Grönberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen S; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Park, Jong J; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Pandha, Hardev H; , ; Lathrop, Mark M; Martin, Richard M RM; Holly, Jeff M P JM
Publication Date: 2016-10-01

Variant appearance in text: rs4234798
PubMed Link: 27225428
Variant Present in the following documents:
  • Main text
  • IJC-139-1520.pdf
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Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs4234798
PubMed Link: 22955986
Variant Present in the following documents:
  • 1748.pdf
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A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.

Human Molecular Genetics
Kaplan, Robert C RC; Petersen, Ann-Kristin AK; Chen, Ming-Huei MH; Teumer, Alexander A; Glazer, Nicole L NL; Döring, Angela A; Lam, Carolyn S P CS; Friedrich, Nele N; Newman, Anne A; Müller, Martina M; Yang, Qiong Q; Homuth, Georg G; Cappola, Anne A; Klopp, Norman N; Smith, Holly H; Ernst, Florian F; Psaty, Bruce M BM; Wichmann, H-Erich HE; Sawyer, Douglas B DB; Biffar, Reiner R; Rotter, Jerome I JI; Gieger, Christian C; Sullivan, Lisa S LS; Völzke, Henry H; Rice, Kenneth K; Spyroglou, Ariadni A; Kroemer, Heyo K HK; Ida Chen, Y-D YD; Manolopoulou, Jenny J; Nauck, Matthias M; Strickler, Howard D HD; Goodarzi, Mark O MO; Reincke, Martin M; Pollak, Michael N MN; Bidlingmaier, Martin M; Vasan, Ramachandran S RS; Wallaschofski, Henri H
Publication Date: 2011-03-15

Variant appearance in text: rs4234798
PubMed Link: 21216879
Variant Present in the following documents:
  • Main text
View BVdb publication page