NOTCH1 c.1661G>A ;(p.C554Y)

Variant ID: 9-139410441-C-T

NM_017617.3(NOTCH1):c.1661G>A;(p.C554Y)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Haematologica
Giesen, Nicola N; Paramasivam, Nagarajan N; Toprak, Umut H UH; Huebschmann, Daniel D; Xu, Jing J; Uhrig, Sebastian S; Samur, Mehmet M; Bähr, Stella S; Fröhlich, Martina M; Mughal, Sadaf S SS; Mai, Elias K EK; Jauch, Anna A; Müller-Tidow, Carsten C; Brors, Benedikt B; Munshi, Nikhil N; Goldschmidt, Hartmut H; Weinhold, Niels N; Schlesner, Matthias M; Raab, Marc S MS
Publication Date: 2022-08-01

Variant appearance in text: NOTCH1: C554Y
PubMed Link: 35045690
Variant Present in the following documents:
  • 2021_279360_GIESEN_TABS2_SUPPL.xlsx, sheet 1
View BVdb publication page



Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: NOTCH1: C554Y
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: NOTCH1: 1661G>A; C554Y
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page