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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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