APC c.3926_3929del ;(p.E1309Gfs*11)

Variant ID: 5-112175217-GAAAA-G

NM_000038.5(APC):c.3926_3929del;(p.E1309Gfs*11)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 3926_3929delAAAA
PubMed Link: 29901124
Variant Present in the following documents:
  • Main text
  • mmr-18-02-1423.pdf
View BVdb publication page



The insulin receptor substrate 1 (IRS1) in intestinal epithelial differentiation and in colorectal cancer.

Plos One
Esposito, Diana L DL; Aru, Federica F; Lattanzio, Rossano R; Morgano, Annalisa A; Abbondanza, Michela M; Malekzadeh, Reza R; Bishehsari, Faraz F; Valanzano, Rosa R; Russo, Antonio A; Piantelli, Mauro M; Moschetta, Antonio A; Lotti, Lavinia Vittoria LV; Mariani-Costantini, Renato R
Publication Date: 2012

Variant appearance in text: N/A
PubMed Link: 22558377
Variant Present in the following documents:
View BVdb publication page