SMARCA4 c.967T>G ;(p.S323A)

Variant ID: 19-11098449-T-G

NM_003072.3(SMARCA4):c.967T>G;(p.S323A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: S323A
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



HRP2-DPF3a-BAF complex coordinates histone modification and chromatin remodeling to regulate myogenic gene transcription.

Nucleic Acids Research
Zhu, Xu X; Lan, Bingxue B; Yi, Xianfu X; He, Chaoran C; Dang, Lin L; Zhou, Xingquan X; Lu, Yumei Y; Sun, Yongzhan Y; Liu, Zhiheng Z; Bai, Xue X; Zhang, Kai K; Li, Bing B; Li, Mulin Jun MJ; Chen, Yupeng Y; Zhang, Lirong L
Publication Date: 2020-07-09

Variant appearance in text: BRG1: S323A
PubMed Link: 32459350
Variant Present in the following documents:
  • Main text
  • gkaa441_supplemental_file.pdf
  • gkaa441.pdf
View BVdb publication page