SMARCA4 c.4301A>G ;(p.D1434G)

Variant ID: 19-11152113-A-G

NM_003072.3(SMARCA4):c.4301A>G;(p.D1434G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Computational And Structural Biotechnology Journal
Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q
Publication Date: 2021

Variant appearance in text: rs777893871
PubMed Link: 34194672
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
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: D1434G
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page