SMARCA4 c.4170G>T ;(p.K1390N)

Variant ID: 19-11145808-G-T

NM_003072.3(SMARCA4):c.4170G>T;(p.K1390N)

This variant was identified in 3 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: K1390N
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: SMARCA4: Lys1390Asn
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genetic analysis of a morphologically heterogeneous ovarian endometrioid carcinoma.

Histopathology
Geyer, Felipe C FC; Pareja, Fresia F; Burke, Kathleen A KA; Schultheis, Anne M AM; Hussein, Yaser R YR; Ye, Jiqing J; De Filippo, Maria R MR; Marchio, Caterina C; Macedo, Gabriel S GS; Piscuoglio, Salvatore S; Lim, Raymond S RS; Toy, Eugene E; Murali, Rajmohan R; Jungbluth, Achim A AA; Reis-Filho, Jorge S JS; Soslow, Robert A RA; Weigelt, Britta B
Publication Date: 2017-09

Variant appearance in text: SMARCA4: K1390N
PubMed Link: 28417598
Variant Present in the following documents:
  • Main text
View BVdb publication page