NOTCH1 c.1288A>G ;(p.I430V)

Variant ID: 9-139412357-T-C

NM_017617.3(NOTCH1):c.1288A>G;(p.I430V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Treatment of advanced lung cancer based on genomic profiling using liquid biopsy (plasma): A review of three cases.

Thoracic Cancer
Mitsumura, Takahiro T; Kumaki, Yuichi Y; Takahashi, Kenta K; Matsudera, Shotaro S; Sakakibara, Rie R; Honda, Takayuki T; Ishizuka, Masahiro M; Iijima, Yuki Y; Shirai, Tsuyoshi T; Okamoto, Tsukasa T; Tateishi, Tomoya T; Sakashita, Hiroyuki H; Miyake, Satoshi S; Ikeda, Sadakatsu S; Miyazaki, Yasunari Y
Publication Date: 2021-09

Variant appearance in text: NOTCH1: I430V
PubMed Link: 34378333
Variant Present in the following documents:
  • Main text
  • TCA-12-2508.pdf
View BVdb publication page



Treatment of advanced lung cancer based on genomic profiling using liquid biopsy (plasma): A review of three cases.

Thoracic Cancer
Mitsumura, Takahiro T; Kumaki, Yuichi Y; Takahashi, Kenta K; Matsudera, Shotaro S; Sakakibara, Rie R; Honda, Takayuki T; Ishizuka, Masahiro M; Iijima, Yuki Y; Shirai, Tsuyoshi T; Okamoto, Tsukasa T; Tateishi, Tomoya T; Sakashita, Hiroyuki H; Miyake, Satoshi S; Ikeda, Sadakatsu S; Miyazaki, Yasunari Y
Publication Date: 2021-09

Variant appearance in text: NOTCH1: I430V
PubMed Link: 34378333
Variant Present in the following documents:
  • Main text
  • TCA-12-2508.pdf
View BVdb publication page



Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications
Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK
Publication Date: 2021-02-05

Variant appearance in text: NOTCH1: 1288A>G; I430V
PubMed Link: 33547292
Variant Present in the following documents:
  • 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page