NOTCH1 c.5638+87A>T

Variant ID: 9-139396113-T-A

NM_017617.3(NOTCH1):c.5638+87A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs11574906
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: rs11574906
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03

Variant appearance in text: rs11574906
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
View BVdb publication page



Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Oncotarget
Sharma, Shruti S; Galanina, Natalie N; Guo, Ailin A; Lee, Jimmy J; Kadri, Sabah S; Van Slambrouck, Charles C; Long, Bradley B; Wang, Weige W; Ming, Mei M; Furtado, Larissa V LV; Segal, Jeremy P JP; Stock, Wendy W; Venkataraman, Girish G; Tang, Wei-Jen WJ; Lu, Pin P; Wang, Yue Lynn YL
Publication Date: 2016-10-18

Variant appearance in text: NOTCH1: 5638+87A>T
PubMed Link: 27626698
Variant Present in the following documents:
  • oncotarget-07-68833-s002.xlsx, sheet 3
  • oncotarget-07-68833-s002.xlsx, sheet 2
  • oncotarget-07-68833-s002.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

The Journal Of Thoracic And Cardiovascular Surgery
Kent, Kathleen C KC; Crenshaw, Melissa L ML; Goh, Denise L M DL; Dietz, Harry C HC
Publication Date: 2013-07

Variant appearance in text: rs11574906
PubMed Link: 23102684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs11574906
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page