SMARCA4 c.3638_3640del ;(p.K1213del)

Variant ID: 19-11144053-GAGA-G

NM_003072.3(SMARCA4):c.3638_3640del;(p.K1213del)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: SMARCA4: 3638_3640del; Lys1213del
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, 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: K1213del
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Nature Genetics
Wu, Gang G; Diaz, Alexander K AK; Paugh, Barbara S BS; Rankin, Sherri L SL; Ju, Bensheng B; Li, Yongjin Y; Zhu, Xiaoyan X; Qu, Chunxu C; Chen, Xiang X; Zhang, Junyuan J; Easton, John J; Edmonson, Michael M; Ma, Xiaotu X; Lu, Charles C; Nagahawatte, Panduka P; Hedlund, Erin E; Rusch, Michael M; Pounds, Stanley S; Lin, Tong T; Onar-Thomas, Arzu A; Huether, Robert R; Kriwacki, Richard R; Parker, Matthew M; Gupta, Pankaj P; Becksfort, Jared J; Wei, Lei L; Mulder, Heather L HL; Boggs, Kristy K; Vadodaria, Bhavin B; Yergeau, Donald D; Russell, Jake C JC; Ochoa, Kerri K; Fulton, Robert S RS; Fulton, Lucinda L LL; Jones, Chris C; Boop, Frederick A FA; Broniscer, Alberto A; Wetmore, Cynthia C; Gajjar, Amar A; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK; Taylor, Michael R MR; Downing, James R JR; Ellison, David W DW; Zhang, Jinghui J; Baker, Suzanne J SJ
Publication Date: 2014-05

Variant appearance in text: SMARCA4: K1213del
PubMed Link: 24705251
Variant Present in the following documents:
  • NIHMS573627-supplement-2.xlsx, sheet 10
View BVdb publication page