NOTCH1 c.1334C>T ;(p.T445M)

Variant ID: 9-139412311-G-A

NM_017617.3(NOTCH1):c.1334C>T;(p.T445M)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Tracking Neoantigens by Personalized Circulating Tumor DNA Sequencing during Checkpoint Blockade Immunotherapy in Non-Small Cell Lung Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Jia, Qingzhu Q; Chiu, Luting L; Wu, Shuangxiu S; Bai, Jian J; Peng, Lina L; Zheng, Linpeng L; Zang, Rui R; Li, Xueqin X; Yuan, Bibo B; Gao, Yixing Y; Wu, Dingyong D; Li, Xiaohong X; Wu, Lin L; Sun, Jianguo J; He, Ji J; Robinson, Bruce W S BWS; Zhu, Bo B
Publication Date: 2020-05

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 32382482
Variant Present in the following documents:
  • ADVS-7-1903410-s004.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: NOTCH1: 1334C>T; T445M
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach.

Journal Of Clinical Medicine
Girdauskas, Evaldas E; Kaemmerer, Harald H; von Kodolitsch, Yskert Y
Publication Date: 2020-01-11

Variant appearance in text: NOTCH1: T445M
PubMed Link: 31940858
Variant Present in the following documents:
  • Main text
  • jcm-09-00204.pdf
View BVdb publication page



MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy.

Plos One
Girdauskas, Evaldas E; Petersen, Johannes J; Neumann, Niklas N; Ungelenk, Martin M; Kurth, Ingo I; Reichenspurner, Hermann H; Zeller, Tanja T
Publication Date: 2018

Variant appearance in text: NOTCH1: 1334C>T; T445M; rs752919688
PubMed Link: 30059548
Variant Present in the following documents:
  • Main text
  • pone.0200205.pdf
View BVdb publication page