SMARCA4 c.2243T>C ;(p.L748P)

Variant ID: 19-11121176-T-C

NM_003072.3(SMARCA4):c.2243T>C;(p.L748P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Advantages and Limitations of Monitoring Circulating Tumor DNA Levels to Predict the Prognosis of Patients Diagnosed With Gastric Cancer.

Biomarker Insights
He, Wan W; Yang, Jingxin J; Sun, Xiao X; Jiang, Shunda S; Jiang, Jinchan J; Liu, Ming M; Mu, Tianhao T; Li, Yingmei Y; Zhang, Xiaoni X; Duan, Jingxian J; Xu, Ruilian R
Publication Date: 2022

Variant appearance in text: SMARCA4: 2243T>C; L748P
PubMed Link: 36533271
Variant Present in the following documents:
  • sj-xlsx-2-bmi-10.1177_11772719221141525.xlsx, sheet 1
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: 2243T>C; L748P
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: L748P
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page