NOTCH1 c.752G>A ;(p.G251D)

Variant ID: 9-139414008-C-T

NM_017617.3(NOTCH1):c.752G>A;(p.G251D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: NOTCH1: 752G>A; G251D; rs749943647
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A
Publication Date: 2022-11

Variant appearance in text: NOTCH1: 752G>A; Gly251Asp
PubMed Link: 35697931
Variant Present in the following documents:
  • 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Blast cells surviving acute myeloid leukemia induction therapy are in cycle with a signature of FOXM1 activity.

Bmc Cancer
Williams, Mark S MS; Basma, Naseer J NJ; Amaral, Fabio M R FMR; Wiseman, Daniel H DH; Somervaille, Tim C P TCP
Publication Date: 2021-10-28

Variant appearance in text: NOTCH1: G251D
PubMed Link: 34711181
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8839.pdf
View BVdb publication page



Human Lung Adenocarcinoma-Derived Organoid Models for Drug Screening.

Iscience
Li, Zhichao Z; Qian, Youhui Y; Li, Wujiao W; Liu, Lisa L; Yu, Lei L; Liu, Xia X; Wu, Guodong G; Wang, Youyu Y; Luo, Weibin W; Fang, Fuyuan F; Liu, Yuchen Y; Song, Fei F; Cai, Zhiming Z; Chen, Wei W; Huang, Weiren W
Publication Date: 2020-08-21

Variant appearance in text: NOTCH1: 752G>A; G251D
PubMed Link: 32771979
Variant Present in the following documents:
  • mmc2.xls, sheet 1
View BVdb publication page