SMARCA4 c.4537C>T ;(p.R1513C)

Variant ID: 19-11169467-C-T

NM_003072.3(SMARCA4):c.4537C>T;(p.R1513C)

This variant was identified in 3 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: R1513C
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: SMARCA4: R1513C
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.

Oncotarget
Costa, Valerio V; Esposito, Roberta R; Ziviello, Carmela C; Sepe, Romina R; Bim, Larissa Valdemarin LV; Cacciola, Nunzio Antonio NA; Decaussin-Petrucci, Myriam M; Pallante, Pierlorenzo P; Fusco, Alfredo A; Ciccodicola, Alfredo A
Publication Date: 2015-05-10

Variant appearance in text: SMARCA4: R1513C
PubMed Link: 25803323
Variant Present in the following documents:
  • Main text
  • oncotarget-06-11242.pdf
View BVdb publication page