NOTCH1 c.3146del ;(p.Q1049Rfs*130)

Variant ID: 9-139403347-CT-C

NM_017617.3(NOTCH1):c.3146del;(p.Q1049Rfs*130)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Scientific Reports
Gutiontov, Stanley I SI; Turchan, William Tyler WT; Spurr, Liam F LF; Rouhani, Sherin J SJ; Chervin, Carolina Soto CS; Steinhardt, George G; Lager, Angela M AM; Wanjari, Pankhuri P; Malik, Renuka R; Connell, Philip P PP; Chmura, Steven J SJ; Juloori, Aditya A; Hoffman, Philip C PC; Ferguson, Mark K MK; Donington, Jessica S JS; Patel, Jyoti D JD; Vokes, Everett E EE; Weichselbaum, Ralph R RR; Bestvina, Christine M CM; Segal, Jeremy P JP; Pitroda, Sean P SP
Publication Date: 2021-10-08

Variant appearance in text: NOTCH1: 3146del; Q1049Rfs*130
PubMed Link: 34625620
Variant Present in the following documents:
  • 41598_2021_99524_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports
Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y
Publication Date: 2020-12-16

Variant appearance in text: NOTCH1: 3146delA
PubMed Link: 33328548
Variant Present in the following documents:
  • 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page