SMARCA4 c.3676C>T ;(p.Q1226*)

Variant ID: 19-11144095-C-T

NM_003072.3(SMARCA4):c.3676C>T;(p.Q1226*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Correlations of switch/sucrose nonfermentable complex mutations with clinical outcomes in advanced non-small cell lung cancer.

Thoracic Cancer
Chang, Geyun G; Li, Weihua W; Bai, Hua H; Duan, Jianchun J; Wang, Zhijie Z; Du, Xinyang X; Yu, Ruofei R; Wang, Yaxi Y; Wang, Minghao M; Zhu, Yixiang Y; Zhang, Xue X; Li, Li L; Wan, Rui R; Wang, Jie J
Publication Date: 2022-11

Variant appearance in text: SMARCA4: Q1226*
PubMed Link: 36126963
Variant Present in the following documents:
  • TCA-13-2951-s001.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: Q1226*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer
Lu, Bingjian B; Shi, Haiyan H
Publication Date: 2019

Variant appearance in text: SMARCA4: 3676C>T
PubMed Link: 30662543
Variant Present in the following documents:
  • Main text
  • jcav10p0223.pdf
View BVdb publication page



SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology
Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O
Publication Date: 2017-09

Variant appearance in text: SMARCA4: 3676C>T; Gln1226*
PubMed Link: 28608987
Variant Present in the following documents:
View BVdb publication page