INTS11 c.1641A>C ;(p.P547=)

Variant ID: 1-1247494-T-G

NM_017871.5(INTS11):c.1641A>C;(p.P547=)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs12103
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs12103
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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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: rs12103
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs12103
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: CPSF3L: P547P; rs12103
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Novel Genetic Risk Variants Can Predict Anti-TNF Agent Response in Patients With Inflammatory Bowel Disease.

Journal Of Crohn'S & Colitis
Wang, Ming-Hsi MH; Friton, Jessica J JJ; Raffals, Laura E LE; Leighton, Jonathan A JA; Pasha, Shabana F SF; Picco, Michael F MF; Cushing, Kelly C KC; Monroe, Kelly K; Nix, Billy D BD; Newberry, Rodney D RD; Faubion, William A WA
Publication Date: 2019-08-14

Variant appearance in text: rs12103
PubMed Link: 30689765
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs12103
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_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: CPSF3L: P547P; rs12103
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics
Zhang, Ge G; Muglia, Louis J LJ; Chakraborty, Ranajit R; Akey, Joshua M JM; Williams, Scott M SM
Publication Date: 2013-12-01

Variant appearance in text: rs12103
PubMed Link: 27896059
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Blood and Intestine eQTLs from an Anti-TNF-Resistant Crohn's Disease Cohort Inform IBD Genetic Association Loci.

Clinical And Translational Gastroenterology
Di Narzo, Antonio F AF; Peters, Lauren A LA; Argmann, Carmen C; Stojmirovic, Aleksandar A; Perrigoue, Jacqueline J; Li, Katherine K; Telesco, Shannon S; Kidd, Brian B; Walker, Jennifer J; Dudley, Joel J; Cho, Judy J; Schadt, Eric E EE; Kasarskis, Andrew A; Curran, Mark M; Dobrin, Radu R; Hao, Ke K
Publication Date: 2016-06-23

Variant appearance in text: rs12103
PubMed Link: 27336838
Variant Present in the following documents:
  • Main text
  • ctg201634a.pdf
View BVdb publication page



Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility.

Expert Review Of Clinical Immunology
Ye, Byong Duk BD; McGovern, Dermot P B DP
Publication Date: 2016-10

Variant appearance in text: rs12103
PubMed Link: 27156530
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Inflammatory Bowel Diseases.

Gastroenterology
McGovern, Dermot P B DP; Kugathasan, Subra S; Cho, Judy H JH
Publication Date: 2015-10

Variant appearance in text: rs12103
PubMed Link: 26255561
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: CPSF3L: P547P; rs12103
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Computational analysis of the LRRK2 interactome.

Peerj
Manzoni, Claudia C; Denny, Paul P; Lovering, Ruth C RC; Lewis, Patrick A PA
Publication Date: 2015

Variant appearance in text: rs12103
PubMed Link: 25737818
Variant Present in the following documents:
  • Main text
  • peerj-03-778.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: CPSF3L: P547P; rs12103
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics
Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG
Publication Date: 2014-11

Variant appearance in text: rs12103
PubMed Link: 25305756
Variant Present in the following documents:
  • NIHMS630801-supplement-1.pdf
View BVdb publication page



The contribution of genetic variants to disease depends on the ruler.

Nature Reviews. Genetics
Witte, John S JS; Visscher, Peter M PM; Wray, Naomi R NR
Publication Date: 2014-11

Variant appearance in text: rs12103
PubMed Link: 25223781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expression quantitative trait loci analysis identifies associations between genotype and gene expression in human intestine.

Gastroenterology
Kabakchiev, Boyko B; Silverberg, Mark S MS
Publication Date: 2013-06

Variant appearance in text: rs12103
PubMed Link: 23474282
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of hematological toxicities between innovator and generic cisplatin formulations in cervical cancer patients treated with concurrent chemoradiotherapy.

Journal Of Radiation Research
Oike, Takahiro T; Ohno, Tatsuya T; Noda, Shin-ei SE; Sato, Hiro H; Tamaki, Tomoaki T; Kiyohara, Hiroki H; Ando, Ken K; Nakano, Takashi T
Publication Date: 2013-05

Variant appearance in text: rs12103
PubMed Link: 23242248
Variant Present in the following documents:
  • Main text
View BVdb publication page



Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Nature
Jostins, Luke L; Ripke, Stephan S; Weersma, Rinse K RK; Duerr, Richard H RH; McGovern, Dermot P DP; Hui, Ken Y KY; Lee, James C JC; Schumm, L Philip LP; Sharma, Yashoda Y; Anderson, Carl A CA; Essers, Jonah J; Mitrovic, Mitja M; Ning, Kaida K; Cleynen, Isabelle I; Theatre, Emilie E; Spain, Sarah L SL; Raychaudhuri, Soumya S; Goyette, Philippe P; Wei, Zhi Z; Abraham, Clara C; Achkar, Jean-Paul JP; Ahmad, Tariq T; Amininejad, Leila L; Ananthakrishnan, Ashwin N AN; Andersen, Vibeke V; Andrews, Jane M JM; Baidoo, Leonard L; Balschun, Tobias T; Bampton, Peter A PA; Bitton, Alain A; Boucher, Gabrielle G; Brand, Stephan S; Büning, Carsten C; Cohain, Ariella A; Cichon, Sven S; D'Amato, Mauro M; De Jong, Dirk D; Devaney, Kathy L KL; Dubinsky, Marla M; Edwards, Cathryn C; Ellinghaus, David D; Ferguson, Lynnette R LR; Franchimont, Denis D; Fransen, Karin K; Gearry, Richard R; Georges, Michel M; Gieger, Christian C; Glas, Jürgen J; Haritunians, Talin T; Hart, Ailsa A; Hawkey, Chris C; Hedl, Matija M; Hu, Xinli X; Karlsen, Tom H TH; Kupcinskas, Limas L; Kugathasan, Subra S; Latiano, Anna A; Laukens, Debby D; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mahy, Gillian G; Mansfield, John J; Morgan, Angharad R AR; Mowat, Craig C; Newman, William W; Palmieri, Orazio O; Ponsioen, Cyriel Y CY; Potocnik, Uros U; Prescott, Natalie J NJ; Regueiro, Miguel M; Rotter, Jerome I JI; Russell, Richard K RK; Sanderson, Jeremy D JD; Sans, Miquel M; Satsangi, Jack J; Schreiber, Stefan S; Simms, Lisa A LA; Sventoraityte, Jurgita J; Targan, Stephan R SR; Taylor, Kent D KD; Tremelling, Mark M; Verspaget, Hein W HW; De Vos, Martine M; Wijmenga, Cisca C; Wilson, David C DC; Winkelmann, Juliane J; Xavier, Ramnik J RJ; Zeissig, Sebastian S; Zhang, Bin B; Zhang, Clarence K CK; Zhao, Hongyu H; , ; Silverberg, Mark S MS; Annese, Vito V; Hakonarson, Hakon H; Brant, Steven R SR; Radford-Smith, Graham G; Mathew, Christopher G CG; Rioux, John D JD; Schadt, Eric E EE; Daly, Mark J MJ; Franke, Andre A; Parkes, Miles M; Vermeire, Severine S; Barrett, Jeffrey C JC; Cho, Judy H JH
Publication Date: 2012-11-01

Variant appearance in text: rs12103
PubMed Link: 23128233
Variant Present in the following documents:
  • Main text
View BVdb publication page