SMARCA4 c.2014G>C ;(p.E672Q)

Variant ID: 19-11118590-G-C

NM_003072.3(SMARCA4):c.2014G>C;(p.E672Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Human Genome Variation
Moradian, Mike M MM; Babikyan, Davit T DT; Markarian, Sione S; Petrosyan, Jonny G JG; Avanesian, Nare N; Arutunyan, Tereza T; Sarkisian, Tamara F TF
Publication Date: 2021-02-09

Variant appearance in text: SMARCA4: 2014G>C; Glu672Gln
PubMed Link: 33558524
Variant Present in the following documents:
  • 41439_2021_140_MOESM2_ESM.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: E672Q
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page