SMARCA4 c.172A>G ;(p.T58A)

Variant ID: 19-11094999-A-G

NM_003072.3(SMARCA4):c.172A>G;(p.T58A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Journal Of Genomics
Laraqui, Abdelilah A; Cavaillé, Mathias M; Uhrhammer, Nancy N; ElBiad, Oubaida O; Bidet, Yannick Y; El Rhaffouli, Hicham H; El Anaz, Hicham H; Rahali, Driss Moussaoui DM; Kouach, Jaouad J; Guelzim, Khaled K; Badaoui, Bouabid B; AlBouzidi, Abderrahman A; Oukabli, Mohammed M; Tanz, Rachid R; Sbitti, Yasser Y; Ichou, Mohammed M; Ennibi, Khaled K; Sekhsokh, Yassine Y; Bignon, Yves-Jean YJ
Publication Date: 2021

Variant appearance in text: SMARCA4: 172A>G; Thr58Ala
PubMed Link: 34646395
Variant Present in the following documents:
  • jgenv09p0043.pdf
View BVdb publication page



Telomerase regulates MYC-driven oncogenesis independent of its reverse transcriptase activity.

The Journal Of Clinical Investigation
Koh, Cheryl M CM; Khattar, Ekta E; Leow, Shi Chi SC; Liu, Chia Yi CY; Muller, Julius J; Ang, Wei Xia WX; Li, Yinghui Y; Franzoso, Guido G; Li, Shang S; Guccione, Ernesto E; Tergaonkar, Vinay V
Publication Date: 2015-05

Variant appearance in text: BRG1: T58A
PubMed Link: 25893605
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular variants and mutations in medulloblastoma.

Pharmacogenomics And Personalized Medicine
Schroeder, Kristin K; Gururangan, Sri S
Publication Date: 2014

Variant appearance in text: SMARCA4: T58A
PubMed Link: 24523595
Variant Present in the following documents:
  • Main text
View BVdb publication page