NR1I3 c.917+116G>C

Variant ID: 1-161200487-C-G

NM_005122.4(NR1I3):c.917+116G>C

This variant was identified in 26 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: rs4073054
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics Role of Genetic Variants in Immune-Related Factors: A Systematic Review Focusing on mCRC.

Pharmaceutics
Scarabel, Lucia L; Bignucolo, Alessia A; Toffoli, Giuseppe G; Cecchin, Erika E; De Mattia, Elena E
Publication Date: 2022-11-15

Variant appearance in text: rs4073054
PubMed Link: 36432658
Variant Present in the following documents:
  • Main text
  • pharmaceutics-14-02468.pdf
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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: rs4073054
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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: rs4073054
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: rs4073054
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs4073054
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Meta-Analysis of ABCG2 and ABCB1 Polymorphisms With Sunitinib-Induced Toxicity and Efficacy in Renal Cell Carcinoma.

Frontiers In Pharmacology
Sun, Fengjun F; Chen, Zhuo Z; Yao, Pu P; Weng, Bangbi B; Liu, Zhirui Z; Cheng, Lin L
Publication Date: 2021

Variant appearance in text: rs4073054
PubMed Link: 33762959
Variant Present in the following documents:
  • Main text
  • fphar-12-641075.pdf
View BVdb publication page



Pharmacogenetics for severe adverse drug reactions induced by molecular-targeted therapy.

Cancer Science
Udagawa, Chihiro C; Zembutsu, Hitoshi H
Publication Date: 2020-10

Variant appearance in text: rs4073054
PubMed Link: 32780457
Variant Present in the following documents:
  • Main text
  • CAS-111-3445.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs4073054
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Germline Polymorphisms in the Nuclear Receptors PXR and VDR as Novel Prognostic Markers in Metastatic Colorectal Cancer Patients Treated With FOLFIRI.

Frontiers In Oncology
De Mattia, Elena E; Polesel, Jerry J; Roncato, Rossana R; Labriet, Adrien A; Bignucolo, Alessia A; Dreussi, Eva E; Romanato, Loredana L; Guardascione, Michela M; Buonadonna, Angela A; D'Andrea, Mario M; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Guillemette, Chantal C; Cecchin, Erika E; Toffoli, Giuseppe G
Publication Date: 2019

Variant appearance in text: rs4073054
PubMed Link: 31850208
Variant Present in the following documents:
  • Main text
  • fonc-09-01312.pdf
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: rs4073054
PubMed Link: 31597922
Variant Present in the following documents:
  • 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_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
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Association of PXR and CAR Polymorphisms and Antituberculosis Drug-Induced Hepatotoxicity.

Scientific Reports
Wang, Yu Y; Xiang, Xi X; Huang, Wei-Wei WW; Sandford, Andrew J AJ; Wu, Shou-Quan SQ; Zhang, Miao-Miao MM; Wang, Ming-Gui MG; Chen, Guo G; He, Jian-Qing JQ
Publication Date: 2019-02-18

Variant appearance in text: rs4073054
PubMed Link: 30778091
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_38452.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs4073054
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients.

Frontiers In Pharmacology
De Mattia, Elena E; Cecchin, Erika E; Montico, Marcella M; Labriet, Adrien A; Guillemette, Chantal C; Dreussi, Eva E; Roncato, Rossana R; Bignucolo, Alessia A; Buonadonna, Angela A; D'Andrea, Mario M; Coppola, Luigi L; Lonardi, Sara S; Lévesque, Eric E; Jonker, Derek D; Couture, Félix F; Toffoli, Giuseppe G
Publication Date: 2018

Variant appearance in text: rs4073054
PubMed Link: 29706892
Variant Present in the following documents:
  • Main text
  • fphar-09-00367.pdf
View BVdb publication page



Global analysis of A-to-I RNA editing reveals association with common disease variants.

Peerj
Franzén, Oscar O; Ermel, Raili R; Sukhavasi, Katyayani K; Jain, Rajeev R; Jain, Anamika A; Betsholtz, Christer C; Giannarelli, Chiara C; Kovacic, Jason C JC; Ruusalepp, Arno A; Skogsberg, Josefin J; Hao, Ke K; Schadt, Eric E EE; Björkegren, Johan L M JLM
Publication Date: 2018

Variant appearance in text: rs4073054
PubMed Link: 29527417
Variant Present in the following documents:
  • Main text
  • peerj-06-4466.pdf
View BVdb publication page



Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma.

Oncotarget
Garrigós, Carmen C; Espinosa, Marta M; Salinas, Ana A; Osman, Ignacio I; Medina, Rafael R; Taron, Miguel M; Molina-Pinelo, Sonia S; Duran, Ignacio I
Publication Date: 2017-12-05

Variant appearance in text: rs4073054
PubMed Link: 29290970
Variant Present in the following documents:
  • Main text
  • oncotarget-08-106551.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4073054
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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A Phase I/II Multicenter Study of Single-Agent Foretinib as First-Line Therapy in Patients with Advanced Hepatocellular Carcinoma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Yau, Thomas C C TCC; Lencioni, Riccardo R; Sukeepaisarnjaroen, Wattana W; Chao, Yee Y; Yen, Chia-Jui CJ; Lausoontornsiri, Wirote W; Chen, Pei-Jer PJ; Sanpajit, Theeranun T; Camp, Aaron A; Cox, Donna S DS; Gagnon, Robert C RC; Liu, Yuan Y; Raffensperger, Kristen E KE; Kulkarni, Diptee A DA; Kallender, Howard H; Ottesen, Lone Harild LH; Poon, Ronnie T P RTP; Bottaro, Donald P DP
Publication Date: 2017-05-15

Variant appearance in text: rs4073054
PubMed Link: 27821605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs4073054
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



A case of metastatic renal cell carcinoma and bile duct carcinoma treated with a combination of sunitinib and gemcitabine.

Bmc Cancer
Takayoshi, Kotoe K; Sagara, Kosuke K; Uchino, Keita K; Kusaba, Hitoshi H; Sakamoto, Naotaka N; Iguchi, Atsushi A; Baba, Eishi E
Publication Date: 2015-05-22

Variant appearance in text: rs4073054
PubMed Link: 26001650
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1443.pdf
View BVdb publication page



Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib.

British Journal Of Cancer
Beuselinck, B B; Karadimou, A A; Lambrechts, D D; Claes, B B; Wolter, P P; Couchy, G G; Berkers, J J; Paridaens, R R; Schöffski, P P; Méjean, A A; Verkarre, V V; Lerut, E E; de la Taille, A A; Tourani, J-M JM; Bigot, P P; Linassier, C C; Négrier, S S; Berger, J J; Patard, J-J JJ; Zucman-Rossi, J J; Oudard, S S
Publication Date: 2013-03-05

Variant appearance in text: rs4073054
PubMed Link: 23462807
Variant Present in the following documents:
  • Main text
  • bjc2012548a.pdf
View BVdb publication page



Pharmacogenetic biomarkers for the prediction of response to antiangiogenic treatment.

The Lancet. Oncology
Schneider, Bryan P BP; Shen, Fei F; Miller, Kathy D KD
Publication Date: 2012-10

Variant appearance in text: rs4073054
PubMed Link: 23026828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathway-Targeted Pharmacogenomics of CYP1A2 in Human Liver.

Frontiers In Pharmacology
Klein, Kathrin K; Winter, Stefan S; Turpeinen, Miia M; Schwab, Matthias M; Zanger, Ulrich M UM
Publication Date: 2010

Variant appearance in text: rs4073054
PubMed Link: 21918647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of relative telomere length.

Plos One
Prescott, Jennifer J; Kraft, Peter P; Chasman, Daniel I DI; Savage, Sharon A SA; Mirabello, Lisa L; Berndt, Sonja I SI; Weissfeld, Joel L JL; Han, Jiali J; Hayes, Richard B RB; Chanock, Stephen J SJ; Hunter, David J DJ; De Vivo, Immaculata I
Publication Date: 2011-05-10

Variant appearance in text: rs4073054
PubMed Link: 21573004
Variant Present in the following documents:
  • Main text
  • pone.0019635.pdf
View BVdb publication page



Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification.

The Journal Of Molecular Diagnostics : Jmd
Baak-Pablo, Renee R; Dezentje, Vincent V; Guchelaar, Henk-Jan HJ; van der Straaten, Tahar T
Publication Date: 2010-11

Variant appearance in text: rs4073054
PubMed Link: 20847277
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research
Weissglas-Volkov, Daphna D; Pajukanta, Päivi P
Publication Date: 2010-08

Variant appearance in text: rs4073054
PubMed Link: 20421590
Variant Present in the following documents:
  • Main text
View BVdb publication page