SMARCA4 c.3395C>T ;(p.A1132V)

Variant ID: 19-11141418-C-T

NM_003072.3(SMARCA4):c.3395C>T;(p.A1132V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: SMARCA4: A1132V
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.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: 3395C>T; Ala1132Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: Ala1132Val
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: A1132V
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Pentsova, Elena I EI; Shah, Ronak H RH; Tang, Jiabin J; Boire, Adrienne A; You, Daoqi D; Briggs, Samuel S; Omuro, Antonio A; Lin, Xuling X; Fleisher, Martin M; Grommes, Christian C; Panageas, Katherine S KS; Meng, Fanli F; Selcuklu, S Duygu SD; Ogilvie, Shahiba S; Distefano, Natalie N; Shagabayeva, Larisa L; Rosenblum, Marc M; DeAngelis, Lisa M LM; Viale, Agnes A; Mellinghoff, Ingo K IK; Berger, Michael F MF
Publication Date: 2016-07-10

Variant appearance in text: SMARCA4: 3395C>T; A1132V
PubMed Link: 27161972
Variant Present in the following documents:
  • supp_JCO.2016.66.6487_DS_2016.666487.xlsx, sheet 1
View BVdb publication page