SMARCA4 c.28G>C ;(p.G10R)

Variant ID: 19-11094855-G-C

NM_003072.3(SMARCA4):c.28G>C;(p.G10R)

This variant was identified in 2 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: G10R
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: SMARCA4: Gly10Arg
PubMed Link: 29559732
Variant Present in the following documents:
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page