NOTCH1 c.4867G>A ;(p.E1623K)

Variant ID: 9-139399276-C-T

NM_017617.3(NOTCH1):c.4867G>A;(p.E1623K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
BirkeƤlv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: NOTCH1: 4867G>A; E1623K
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: NOTCH1: 4867G>A; E1623K
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



PSEN1-selective gamma-secretase inhibition in combination with kinase or XPO-1 inhibitors effectively targets T cell acute lymphoblastic leukemia.

Journal Of Hematology & Oncology
Govaerts, Inge I; Prieto, Cristina C; Vandersmissen, Charlien C; Gielen, Olga O; Jacobs, Kris K; Provost, Sarah S; Nittner, David D; Maertens, Johan J; Boeckx, Nancy N; De Keersmaecker, Kim K; Segers, Heidi H; Cools, Jan J
Publication Date: 2021-06-24

Variant appearance in text: NOTCH1: E1623K
PubMed Link: 34167562
Variant Present in the following documents:
  • 13045_2021_1114_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: NOTCH1: 4867G>A; E1623K
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page