SMARCA4 c.346C>T ;(p.H116Y)

Variant ID: 19-11096072-C-T

NM_003072.3(SMARCA4):c.346C>T;(p.H116Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Identification of antigenic epitopes recognized by tumor infiltrating lymphocytes in high grade serous ovarian cancer by multi-omics profiling of the auto-antigen repertoire.

Cancer Immunology, Immunotherapy : Cii
Millar, Douglas G DG; Yang, S Y Cindy SYC; Sayad, Azin A; Zhao, Qingchuan Q; Nguyen, Linh T LT; Warner, Kathrin K; Sangster, Ami G AG; Nakatsugawa, Munehide M; Murata, Kenji K; Wang, Ben X BX; Shaw, Patricia P; Clarke, Blaise B; Bernardini, Marcus Q MQ; Pugh, Trevor T; Thibault, Pierre P; Hirano, Naoto N; Perreault, Claude C; Ohashi, Pamela S PS
Publication Date: 2023-03-21

Variant appearance in text: SMARCA4: H116Y
PubMed Link: 36943460
Variant Present in the following documents:
  • 262_2023_3413_MOESM1_ESM.pdf
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: 346C>T; H116Y
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_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: H116Y
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: SMARCA4: 346C>T
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
  • 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page