SMARCA4 c.2942A>C ;(p.K981T)

Variant ID: 19-11134276-A-C

NM_003072.3(SMARCA4):c.2942A>C;(p.K981T)

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: K981T
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.

Medicine
Shim, Kwang Eon KE; Lee, Chung C; Kim, Jin Up JU; Choi, Gwang Ho GH; Kwak, Kyoung Min KM; Kim, Seok Hyung SH; Kim, Hyunho H; Yoon, Jong Woo JW; Shin, Tae Young TY; Jeong, Chang Wook CW; Kim, Hyunsuk H
Publication Date: 2020-05

Variant appearance in text: SMARCA4: K981T
PubMed Link: 32384474
Variant Present in the following documents:
  • Main text
  • medi-99-e20071.pdf
View BVdb publication page