APC c.4042A>T ;(p.R1348W)

Variant ID: 5-112175333-A-T

NM_000038.5(APC):c.4042A>T;(p.R1348W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: APC: R1348W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Pathological unfoldomics of uncontrolled chaos: intrinsically disordered proteins and human diseases.

Chemical Reviews
Uversky, Vladimir N VN; Davé, Vrushank V; Iakoucheva, Lilia M LM; Malaney, Prerna P; Metallo, Steven J SJ; Pathak, Ravi Ramesh RR; Joerger, Andreas C AC
Publication Date: 2014-07-09

Variant appearance in text: APC: R1348W
PubMed Link: 24830552
Variant Present in the following documents:
  • Main text
View BVdb publication page