SMARCA4 c.1129C>T ;(p.R377C)

Variant ID: 19-11100003-C-T

NM_003072.3(SMARCA4):c.1129C>T;(p.R377C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


SWI/SNF complex gene variations are associated with a higher tumor mutational burden and a better response to immune checkpoint inhibitor treatment: a pan-cancer analysis of next-generation sequencing data corresponding to 4591 cases.

Cancer Cell International
Li, Yue Y; Yang, Xinhua X; Zhu, Weijie W; Xu, Yuxia Y; Ma, Jiangjun J; He, Caiyun C; Wang, Fang F
Publication Date: 2022-11-12

Variant appearance in text: SMARCA4: R377C
PubMed Link: 36371186
Variant Present in the following documents:
  • Main text
  • 12935_2022_Article_2757.pdf
View BVdb publication page



Mutational landscape of primary and recurrent Ewing sarcoma.

Contemporary Oncology (Poznan, Poland)
Jagodzińska-Mucha, Paulina P; Sobczuk, Paweł P; Mikuła, Michał M; Raciborska, Anna A; Dawidowska, Anna A; Kulecka, Maria M; Bilska, Katarzyna K; Szumera-Ciećkiewicz, Anna A; Kluska, Anna A; Piątkowska, Magdalena M; Bałabas, Anna A; Rutkowski, Piotr P; Ługowska, Iwona I
Publication Date: 2021

Variant appearance in text: SMARCA4: R377C
PubMed Link: 35079231
Variant Present in the following documents:
  • WO-25-46027.pdf
View BVdb publication page



Comparable genetic alteration profiles between gastric cancers with current and past Helicobacter pylori infection.

Scientific Reports
Tsuyuki, Sho S; Takeshima, Hideyuki H; Sekine, Shigeki S; Yamagata, Yukinori Y; Ando, Takayuki T; Yamashita, Satoshi S; Maeda, Shin S; Yoshikawa, Takaki T; Ushijima, Toshikazu T
Publication Date: 2021-12-06

Variant appearance in text: SMARCA4: 1129C>T; Arg377Cys
PubMed Link: 34873204
Variant Present in the following documents:
  • 41598_2021_Article_2761.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: R377C
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: R377C
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: SMARCA4: R377C
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page