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NOTCH1 c.712G>A ;(p.D238N)
Variant ID: 9-139417332-C-T
NM_017617.3(
NOTCH1
):c.712G>A;(p.D238N)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: NOTCH1: D238N
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Frontiers In Oncology
Hu, Bin B; Ma, Xiumei X; Huang, Renhua R; Wu, Zheng Z; Lu, Jun J; Guo, Yuntao Y; Tang, Jianmin J; Ma, Chunhui C; Ma, Jun J; Zhang, Lei L; Bai, Yongrui Y
Publication Date: 2021
Variant appearance in text: NOTCH1: 712G>A; Asp238Asn; rs550554578
PubMed Link:
34434896
Variant Present in the following documents:
DataSheet_2.xlsx, sheet 1
DataSheet_6.xlsx, sheet 1
View BVdb publication page
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01
Variant appearance in text: NOTCH1: D238N
PubMed Link:
33795819
Variant Present in the following documents:
42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page
NOTCH1: Review of its role in lymphatic development and study of seven families with rare pathogenic variants.
Molecular Genetics & Genomic Medicine
Michelini, Sandro S; Ricci, Maurizio M; Serrani, Roberta R; Barati, Shila S; Kenanoglu, Sercan S; Veselenyiova, Dominika D; Kurti, Danjela D; Baglivo, Mirko M; Basha, Syed Hussain SH; Priya, Sasi S; Dautaj, Astrit A; Dundar, Munis M; Krajcovic, Juraj J; Bertelli, Matteo M
Publication Date: 2021-01
Variant appearance in text: NOTCH1: 712G>A; Asp238Asn; rs550554578
PubMed Link:
33247628
Variant Present in the following documents:
Main text
MGG3-9-e1529.pdf
View BVdb publication page