SMARCA4 c.2578T>C ;(p.Y860H)

Variant ID: 19-11130339-T-C

NM_003072.3(SMARCA4):c.2578T>C;(p.Y860H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: Y860H
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: SMARCA4: 2578T>C; Tyr860His
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Dominant-negative SMARCA4 mutants alter the accessibility landscape of tissue-unrestricted enhancers.

Nature Structural & Molecular Biology
Hodges, H Courtney HC; Stanton, Benjamin Z BZ; Cermakova, Katerina K; Chang, Chiung-Ying CY; Miller, Erik L EL; Kirkland, Jacob G JG; Ku, Wai Lim WL; Veverka, Vaclav V; Zhao, Keji K; Crabtree, Gerald R GR
Publication Date: 2018-01

Variant appearance in text: SMARCA4: Y860H
PubMed Link: 29323272
Variant Present in the following documents:
  • Main text
  • nihms928250.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: SMARCA4: Y860H
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page