NOTCH1 c.2003C>T ;(p.P668L)

Variant ID: 9-139409753-G-A

NM_017617.3(NOTCH1):c.2003C>T;(p.P668L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 2003C>T; Pro668Leu; rs576030298
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma.

Scientific Reports
Yu, Guoqin G; Hsu, Wan-Lun WL; Coghill, Anna E AE; Yu, Kelly J KJ; Wang, Cheng-Ping CP; Lou, Pei-Jen PJ; Liu, Zhiwei Z; Jones, Kristie K; Vogt, Aurelie A; Wang, Mingyi M; Mbulaiteye, Sam M SM; Chen, Hao-Hui HH; Boland, Joseph J; Yeager, Meredith M; Diehl, Scott R SR; Chen, Chien-Jen CJ; Hildesheim, Allan A; Goldstein, Alisa M AM
Publication Date: 2019-07-09

Variant appearance in text: rs576030298
PubMed Link: 31289279
Variant Present in the following documents:
  • 41598_2019_46137_MOESM1_ESM.pdf
View BVdb publication page



Molecular basis of targeted therapy in T/NK-cell lymphoma/leukemia: A comprehensive genomic and immunohistochemical analysis of a panel of 33 cell lines.

Plos One
Mondejar, Rufino R; Pérez, Cristina C; Onaindia, Arantza A; Martinez, Nerea N; González-Rincón, Julia J; Pisonero, Helena H; Vaqué, Jose Pedro JP; Cereceda, Laura L; Santibañez, Miguel M; Sánchez-Beato, Margarita M; Piris, Miguel Angel MA
Publication Date: 2017

Variant appearance in text: rs576030298
PubMed Link: 28505169
Variant Present in the following documents:
  • pone.0177524.s005.xlsx, sheet 1
  • pone.0177524.s006.xlsx, sheet 1
View BVdb publication page



Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal
Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE
Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: P668L
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page



Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma.

Nature Communications
Cammareri, Patrizia P; Rose, Aidan M AM; Vincent, David F DF; Wang, Jun J; Nagano, Ai A; Libertini, Silvana S; Ridgway, Rachel A RA; Athineos, Dimitris D; Coates, Philip J PJ; McHugh, Angela A; Pourreyron, Celine C; Dayal, Jasbani H S JH; Larsson, Jonas J; Weidlich, Simone S; Spender, Lindsay C LC; Sapkota, Gopal P GP; Purdie, Karin J KJ; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM; Clevers, Hans H; Barker, Nick N; Karlsson, Stefan S; Pritchard, Catrin C; Marais, Richard R; Chelala, Claude C; South, Andrew P AP; Sansom, Owen J OJ; Inman, Gareth J GJ
Publication Date: 2016-08-25

Variant appearance in text: NOTCH1: P668L
PubMed Link: 27558455
Variant Present in the following documents:
  • ncomms12493-s14.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: NOTCH1: P668L
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page