SMARCA4 c.3809G>A ;(p.S1270N)

Variant ID: 19-11144477-G-A

NM_003072.3(SMARCA4):c.3809G>A;(p.S1270N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.

Nature Communications
Lin, Jianzhen J; Peng, Xinxin X; Dong, Kun K; Long, Junyu J; Guo, Xuejiao X; Li, Hongyue H; Bai, Yi Y; Yang, Xu X; Wang, Dongxu D; Lu, Xin X; Mao, Yilei Y; Sang, Xinting X; Ji, Xuwo X; Zhao, Haitao H; Liang, Han H
Publication Date: 2021-08-06

Variant appearance in text: SMARCA4: S1270N
PubMed Link: 34362903
Variant Present in the following documents:
  • 41467_2021_25012_MOESM3_ESM.xlsx, sheet 2
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: S1270N
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: SMARCA4: 3809G>A; S1270N
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page