SMARCA4 c.3086A>G ;(p.K1029R)

Variant ID: 19-11136102-A-G

NM_003072.3(SMARCA4):c.3086A>G;(p.K1029R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The SMARCA4R1157W mutation facilitates chromatin remodeling and confers PRMT1/SMARCA4 inhibitors sensitivity in colorectal cancer.

Npj Precision Oncology
Zeng, Xiangwei X; Yao, Bing B; Liu, Jianpeng J; Gong, Guan-Wen GW; Liu, Ming M; Li, Jiahuang J; Pan, Hua-Feng HF; Li, Qixiang Q; Yang, Dongjun D; Lu, Peifen P; Wu, Dongliang D; Xu, Peipei P; Chen, Bing B; Chen, Panhai P; Zhang, Ming M; Zen, Ke K; Jing, Jian J; Huang, David C S DCS; Chen, Dijun D; Jiang, Zhi-Wei ZW; Zhao, Quan Q
Publication Date: 2023-03-15

Variant appearance in text: SMARCA4: K1029R
PubMed Link: 36922568
Variant Present in the following documents:
  • Main text
  • 41698_2023_Article_367.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 3086A>G; K1029R
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: K1029R
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A PARP1-BRG1-SIRT1 axis promotes HR repair by reducing nucleosome density at DNA damage sites.

Nucleic Acids Research
Chen, Yu Y; Zhang, Haiping H; Xu, Zhu Z; Tang, Huanyin H; Geng, Anke A; Cai, Bailian B; Su, Tao T; Shi, Jiejun J; Jiang, Cizhong C; Tian, Xiao X; Seluanov, Andrei A; Huang, Jun J; Wan, Xiaoping X; Jiang, Ying Y; Gorbunova, Vera V; Mao, Zhiyong Z
Publication Date: 2019-09-19

Variant appearance in text: BRG1: K1029R
PubMed Link: 31291457
Variant Present in the following documents:
  • Main text
  • gkz592.pdf
View BVdb publication page