Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q480*
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APC

NM_000038.6:p.Q480*

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Xu C et al.

Bmc Medical Genomics, 2020

33008377 (PubMed )
Supplement: 12920_2020_804_MOESM1_ESM.xls › SuppTable1

Initial and crucial genetic events in intestinal-type gastric intramucosal neoplasia.

Rokutan H et al.

The Journal of Pathology, 2019

c.1439delA frameshift deletion mutation in familial adenomatous polyposis.

Ma DJ et al.

Oncotargets and Therapy, 2018

Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Ashktorab H et al.

Oncotarget, 2017

29245953 (PubMed )
Supplement: oncotarget-08-99966-s003.xlsx › AA.APC

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s004.xlsx › TableS3

DHPLC analysis of adenomatous polyposis coli (APC) mutations using ready-to-use APC plates: simple detection of multiple base pair deletion mutations.

Kim IJ et al.

Genetic Testing, 2008

Mutation spectrum of the APC gene in 83 Korean FAP families.

Kim DW et al.

Human Mutation, 2005

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations.

De Rosa M et al.

Human Mutation, 2004

[Pilot clinical and genetic study of Russian patients with Peutz-Jeghers syndrome].

Shelygin YA et al.

Voprosy Onkologii, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."