APC c.1766T>A ;(p.L589*)

Variant ID: 5-112170670-T-A

NM_000038.5(APC):c.1766T>A;(p.L589*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: APC: L589*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Molecular Medicine Reports
Pang, Minghui M; Liu, Yijun Y; Hou, Xiaolin X; Yang, Jialiang J; He, Xuelai X; Hou, Nengyi N; Liu, Peixi P; Liang, Luo L; Fu, Junwen J; Wang, Kang K; Ye, Zimeng Z; Gong, Bo B
Publication Date: 2018-08

Variant appearance in text: APC: 1766T>A; Leu589X
PubMed Link: 29901124
Variant Present in the following documents:
  • Main text
  • mmr-18-02-1423.pdf
View BVdb publication page



Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine
Liu, Qi Q; Li, Xiaoxia X; Li, Sen S; Qu, Shengqiang S; Wang, Yu Y; Tang, Qingzhu Q; Ma, Hongwei H; Luo, Yang Y
Publication Date: 2016-08

Variant appearance in text: APC: 1766T>A; Leu589*
PubMed Link: 27000756
Variant Present in the following documents:
  • Main text
  • 13277_2016_Article_4986.pdf
View BVdb publication page