NOTCH1 c.1693_1695delinsATC ;(p.V565I)

Variant ID: 9-139410143-CAC-GAT

NM_017617.3(NOTCH1):c.1693_1695delinsATC;(p.V565I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: NOTCH1: V565I
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyƶ, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: NOTCH1: V565I
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
View BVdb publication page



Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

Bmc Cancer
Bonfiglio, Silvia S; Vanni, Irene I; Rossella, Valeria V; Truini, Anna A; Lazarevic, Dejan D; Dal Bello, Maria Giovanna MG; Alama, Angela A; Mora, Marco M; Rijavec, Erika E; Genova, Carlo C; Cittaro, Davide D; Grossi, Francesco F; Coco, Simona S
Publication Date: 2016-08-30

Variant appearance in text: NOTCH1: V565I
PubMed Link: 27578032
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2720.pdf
View BVdb publication page



NOTCH1 mutations in CLL associated with trisomy 12.

Blood
Balatti, Veronica V; Bottoni, Arianna A; Palamarchuk, Alexey A; Alder, Hansjuerg H; Rassenti, Laura Z LZ; Kipps, Thomas J TJ; Pekarsky, Yuri Y; Croce, Carlo M CM
Publication Date: 2012-01-12

Variant appearance in text: NOTCH1: V565I
PubMed Link: 22086416
Variant Present in the following documents:
  • Main text
View BVdb publication page