SMARCA4 c.356G>T ;(p.G119V)

Variant ID: 19-11096865-G-T

NM_003072.3(SMARCA4):c.356G>T;(p.G119V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: SMARCA4: G119V
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: SMARCA4: G119V
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
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: G119V
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: SMARCA4: G119V
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page