APC c.3871C>G ;(p.Q1291E)

Variant ID: 5-112175162-C-G

NM_000038.5(APC):c.3871C>G;(p.Q1291E)

This variant was identified in 2 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: Q1291E
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

The Journal Of Molecular Diagnostics : Jmd
Kaufmann, Astrid A; Vogt, Stefanie S; Uhlhaas, Siegfried S; Stienen, Dietlinde D; Kurth, Ingo I; Hameister, Horst H; Mangold, Elisabeth E; Kötting, Judith J; Kaminsky, Elke E; Propping, Peter P; Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2009-03

Variant appearance in text: APC: 3871C>G; Gln1291Glu
PubMed Link: 19196998
Variant Present in the following documents:
  • Main text
View BVdb publication page