NOTCH1 c.794A>T ;(p.N265I)

Variant ID: 9-139413966-T-A

NM_017617.3(NOTCH1):c.794A>T;(p.N265I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A surprising cross-species conservation in the genomic landscape of mouse and human oral cancer identifies a transcriptional signature predicting metastatic disease.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Onken, Michael D MD; Winkler, Ashley E AE; Kanchi, Krishna-Latha KL; Chalivendra, Varun V; Law, Jonathan H JH; Rickert, Charles G CG; Kallogjeri, Dorina D; Judd, Nancy P NP; Dunn, Gavin P GP; Piccirillo, Jay F JF; Lewis, James S JS; Mardis, Elaine R ER; Uppaluri, Ravindra R
Publication Date: 2014-06-01

Variant appearance in text: NOTCH1: N265I
PubMed Link: 24668645
Variant Present in the following documents:
  • Main text
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: NOTCH1: N265I
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page