NOTCH1 c.1187C>T ;(p.A396V)

Variant ID: 9-139412657-G-A

NM_017617.3(NOTCH1):c.1187C>T;(p.A396V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: NOTCH1: A396V
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Clonal lineage from normal endometrium to ovarian clear cell carcinoma through ovarian endometriosis.

Cancer Science
Suda, Kazuaki K; Cruz Diaz, Luis Antonio LA; Yoshihara, Kosuke K; Nakaoka, Hirofumi H; Yachida, Nozomi N; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T
Publication Date: 2020-08

Variant appearance in text: NOTCH1: 1187C>T; Ala396Val
PubMed Link: 32473611
Variant Present in the following documents:
  • CAS-111-3000-s008.xls, sheet 1
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: NOTCH1: 1187C>T
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page