SMARCA4 c.178G>C ;(p.G60R)

Variant ID: 19-11095005-G-C

NM_003072.3(SMARCA4):c.178G>C;(p.G60R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Haberecker, Martina M; Bühler, Marco Matteo MM; Mendieta, Alicia Pliego AP; Guggenberger, Roman R; Arnold, Fabian F; Markert, Eva E; Rechsteiner, Markus M; Zoche, Martin M; Britschgi, Christian C; Pauli, Chantal C
Publication Date: 2022-12

Variant appearance in text: SMARCA4: G60R
PubMed Link: 35864317
Variant Present in the following documents:
  • 41379_2022_1133_MOESM1_ESM.pdf
View BVdb publication page



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: G60R
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page