Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1480*
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APC

NM_000038.6:p.Q1480*

Associated Papers

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.

Kałużewski T et al.

International Journal of Molecular Sciences, 2023

Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Wu H et al.

Cancer Communications (london, England), 2022

36264285 (PubMed )
Supplement: CAC2-42-1367-s002.xlsx › Supplementary_Table_S3

Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.

Wang XY et al.

Theranostics, 2022

34987644 (PubMed )
Supplement: thnov12p0260s1.pdf

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Akolkar D et al.

Plos One, 2021

33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1

Integrated genetic and epigenetic analysis of cancer-related genes in non-ampullary duodenal adenomas and intramucosal adenocarcinomas.

Ota R et al.

The Journal of Pathology, 2020

32770675 (PubMed )
Supplement: PATH-252-330-s002.xlsx › Table_S6

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

Rokutan H et al.

The Journal of Pathology, 2019

Exome-wide somatic mutation characterization of small bowel adenocarcinoma.

Hänninen UA et al.

Plos Genetics, 2018

29522538 (PubMed )
Supplement: pgen.1007200.s003.xlsx › b

DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Mamlouk S et al.

Nature Communications, 2017

28120820 (PubMed )
Supplement: ncomms14093-s2.xlsx › inter-tumor_cohort_filtered

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

[Birt-Hogg-Dubé syndrome].

Křepelová A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

[Rhabdoid tumours].

Vasovčák P et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2012

Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.

Jang YH et al.

Cancer Genetics and Cytogenetics, 2010

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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."