SMARCA4 c.2536C>T ;(p.P846S)

Variant ID: 19-11130297-C-T

NM_003072.3(SMARCA4):c.2536C>T;(p.P846S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Characterization of the Genomic and Immunologic Diversity of Malignant Brain Tumors through Multisector Analysis.

Cancer Discovery
Schaettler, Maximilian O MO; Richters, Megan M MM; Wang, Anthony Z AZ; Skidmore, Zachary L ZL; Fisk, Bryan B; Miller, Katherine E KE; Vickery, Tammi L TL; Kim, Albert H AH; Chicoine, Michael R MR; Osbun, Joshua W JW; Leuthardt, Eric C EC; Dowling, Joshua L JL; Zipfel, Gregory J GJ; Dacey, Ralph G RG; Lu, Hsiang-Chih HC; Johanns, Tanner M TM; Griffith, Obi L OL; Mardis, Elaine R ER; Griffith, Malachi M; Dunn, Gavin P GP
Publication Date: 2022-01

Variant appearance in text: SMARCA4: 2536C>T; Pro846Ser
PubMed Link: 34610950
Variant Present in the following documents:
  • cd-21-0291_supplementary_table_1_suppst1.xlsx, sheet 74
  • cd-21-0291_supplementary_table_3_suppst3.xlsx, sheet 74
  • cd-21-0291_supplementary_table_4_suppst4.xlsx, sheet 74
View BVdb publication page



Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Frontiers In Endocrinology
Hu, Ya Y; Zhang, Xiang X; Wang, Ou O; Cui, Ming M; Li, Xiaobin X; Wang, Mengyi M; Hua, Surong S; Liao, Quan Q
Publication Date: 2021

Variant appearance in text: SMARCA4: P846S
PubMed Link: 34054720
Variant Present in the following documents:
  • Table_1.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: P846S
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page