NOTCH1 c.2970-247C>T

Variant ID: 9-139403770-G-A

NM_017617.3(NOTCH1):c.2970-247C>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: NOTCH1: 2970-247C>T; rs3124599
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Ultrasound-microbubbles-mediated microRNA-449a inhibits lung cancer cell growth via the regulation of Notch1.

Oncotargets And Therapy
Meng, Lingwu L; Yuan, Shaofei S; Zhu, Linjia L; ShangGuan, Zongxiao Z; Zhao, Renguo R
Publication Date: 2019

Variant appearance in text: rs3124599
PubMed Link: 31686849
Variant Present in the following documents:
  • ott-12-7437.pdf
View BVdb publication page



Integrated genetic, epigenetic, and gene set enrichment analyses identify NOTCH as a potential mediator for PTSD risk after trauma: Results from two independent African cohorts.

Psychophysiology
Conrad, Daniela D; Wilker, Sarah S; Schneider, Anna A; Karabatsiakis, Alexander A; Pfeiffer, Anett A; Kolassa, Stephan S; Freytag, Virginie V; Vukojevic, Vanja V; Vogler, Christian C; Milnik, Annette A; Papassotiropoulos, Andreas A; J-F de Quervain, Dominique D; Elbert, Thomas T; Kolassa, Iris-Tatjana IT
Publication Date: 2020-01

Variant appearance in text: rs3124599
PubMed Link: 30328613
Variant Present in the following documents:
  • Main text
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: NOTCH1: 2970-247C>T; rs3124599
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Notch polymorphisms associated with sensitivity of noise induced hearing loss among Chinese textile factory workers.

Bmc Medical Genetics
Ding, Enmin E; Liu, Jing J; Shen, Huanxi H; Gong, Wei W; Zhang, Hengdong H; Song, Haiyan H; Zhu, Baoli B
Publication Date: 2018-09-14

Variant appearance in text: rs3124599
PubMed Link: 30217173
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_676.pdf
View BVdb publication page



DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Annals Of The Rheumatic Diseases
Imgenberg-Kreuz, Juliana J; Carlsson Almlöf, Jonas J; Leonard, Dag D; Alexsson, Andrei A; Nordmark, Gunnel G; Eloranta, Maija-Leena ML; Rantapää-Dahlqvist, Solbritt S; Bengtsson, Anders A AA; Jönsen, Andreas A; Padyukov, Leonid L; Gunnarsson, Iva I; Svenungsson, Elisabet E; Sjöwall, Christopher C; Rönnblom, Lars L; Syvänen, Ann-Christine AC; Sandling, Johanna K JK
Publication Date: 2018-05

Variant appearance in text: rs3124599
PubMed Link: 29437559
Variant Present in the following documents:
  • annrheumdis-2017-212379supp016.pdf
View BVdb publication page



Single nucleotide polymorphism rs3124599 in Notch1 is associated with the risk of lung cancer in northeast Chinese non-smoking females.

Oncotarget
Quan, Xiaowei X; Yin, Zhihua Z; Fang, Xue X; Zhou, Baosen B
Publication Date: 2017-05-09

Variant appearance in text: rs3124599
PubMed Link: 28415716
Variant Present in the following documents:
  • Main text
  • oncotarget-08-31180.pdf
View BVdb publication page