SMARCA4 c.360C>G ;(p.Y120*)

Variant ID: 19-11096869-C-G

NM_003072.3(SMARCA4):c.360C>G;(p.Y120*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics
Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y
Publication Date: 2022

Variant appearance in text: SMARCA4: 360C>G; Y120*
PubMed Link: 36685892
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific Reports
Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A
Publication Date: 2021-01-11

Variant appearance in text: SMARCA4: Y120X
PubMed Link: 33431980
Variant Present in the following documents:
  • 41598_2020_Article_79412.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: SMARCA4: 360C>G; Y120*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: Y120*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page