SMARCA4 c.708_713del ;(p.G243_P244del)

Variant ID: 19-11097199-CGGCCCT-C

NM_003072.3(SMARCA4):c.708_713del;(p.G243_P244del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Long-term benefit of immunotherapy in a patient with squamous lung cancer exhibiting mismatch repair deficient/high microsatellite instability/high tumor mutational burden: A case report and literature review.

Frontiers In Immunology
Li, Na N; Wan, Zixuan Z; Lu, Dongyan D; Chen, Ruilian R; Ye, Xiaowei X
Publication Date: 2022

Variant appearance in text: SMARCA4: 708_713del; G243_P244del
PubMed Link: 36703977
Variant Present in the following documents:
  • fimmu-13-1088683.pdf
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: 708_713delTGGCCC; Gly243_Pro244del
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology
Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y
Publication Date: 2021

Variant appearance in text: SMARCA4: 708_713delTGGCCC; G243_P244del
PubMed Link: 34195081
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: SMARCA4: 708_713del; G243_P244del
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page