NOTCH1 c.1033T>A ;(p.F345I)

Variant ID: 9-139413109-A-T

NM_017617.3(NOTCH1):c.1033T>A;(p.F345I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: F345I
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Dormant origins as a built-in safeguard in eukaryotic DNA replication against genome instability and disease development.

Dna Repair
Shima, Naoko N; Pederson, Kayla D KD
Publication Date: 2017-08

Variant appearance in text: NOTCH1: Phe345Ile
PubMed Link: 28641940
Variant Present in the following documents:
  • Main text
View BVdb publication page



A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis.

Plos Genetics
Bagley, Bruce N BN; Keane, Thomas M TM; Maklakova, Vilena I VI; Marshall, Jonathon G JG; Lester, Rachael A RA; Cancel, Michelle M MM; Paulsen, Alex R AR; Bendzick, Laura E LE; Been, Raha A RA; Kogan, Scott C SC; Cormier, Robert T RT; Kendziorski, Christina C; Adams, David J DJ; Collier, Lara S LS
Publication Date: 2012

Variant appearance in text: NOTCH1: Phe345Ile
PubMed Link: 23133403
Variant Present in the following documents:
  • Main text
  • pgen.1003034.pdf
View BVdb publication page