SMARCA4 c.3655A>T ;(p.K1219*)

Variant ID: 19-11144074-A-T

NM_003072.3(SMARCA4):c.3655A>T;(p.K1219*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: K1219*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
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Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma.

Oncology
Heilmann, Andreas M AM; Subbiah, Vivek V; Wang, Kai K; Sun, James X JX; Elvin, Julia A JA; Chmielecki, Juliann J; Sherman, Steven I SI; Murthy, Ravi R; Busaidy, Naifa L NL; Subbiah, Ishwaria I; Yelensky, Roman R; Nangia, Chaitali C; Vergilio, Jo-Anne JA; Khan, Saad A SA; Erlich, Rachel L RL; Lipson, Doron D; Ross, Jeffrey S JS; Miller, Vincent A VA; Shah, Manisha H MH; Ali, Siraj M SM; Stephens, Philip J PJ
Publication Date: 2016

Variant appearance in text: SMARCA4: K1219*
PubMed Link: 27207748
Variant Present in the following documents:
  • Main text
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