SMARCA4 c.368C>T ;(p.P123L)

Variant ID: 19-11096877-C-T

NM_003072.3(SMARCA4):c.368C>T;(p.P123L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Molecular Oncology
Nguyen Hoang, Van-Anh VA; Nguyen, Sao Trung ST; Nguyen, Trieu Vu TV; Pham, Thanh Huyen TH; Doan, Phuoc Loc PL; Nguyen Thi, Ngoc Thanh NT; Nguyen, Minh Long ML; Dinh, Thi Cuc TC; Pham, Dinh Hoang DH; Nguyen, Ngoc Mai NM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022-12-10

Variant appearance in text: SMARCA4: P123L
PubMed Link: 36495126
Variant Present in the following documents:
  • MOL2-17-598-s002.xlsx, sheet 1
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: SMARCA4: Pro123Leu
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: SMARCA4: 368C>T; P123L
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications
Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y
Publication Date: 2020-11-04

Variant appearance in text: SMARCA4: Pro123Leu
PubMed Link: 33149148
Variant Present in the following documents:
  • 41467_2020_19408_MOESM8_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: P123L
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page