SMARCA4 c.4306G>A ;(p.E1436K)

Variant ID: 19-11152118-G-A

NM_003072.3(SMARCA4):c.4306G>A;(p.E1436K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: SMARCA4: 4306G>A; E1436K
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: E1436K
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: SMARCA4: Glu1436Lys
PubMed Link: 29559732
Variant Present in the following documents:
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page