Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1242*
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APC

NM_000038.6:p.Q1242*

Associated Papers

Decay of driver mutations shapes the landscape of intestinal transformation.

Lourenço FC et al.

Nature, 2026

41339549 (PubMed )
Supplement: 41586_2025_9762_MOESM11_ESM.xlsx › ED_Fig_3g

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

Polyclonality overcomes fitness barriers in Apc-driven tumorigenesis.

Sadien ID et al.

Nature, 2024

39478206 (PubMed )
Supplement: 41586_2024_8053_MOESM5_ESM.xlsx › Fig._2k

Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.

Tong L et al.

Theranostics, 2019

31534501 (PubMed )
Supplement: thnov09p5532s1.pdf

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

Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.

Lupini L et al.

Bmc Cancer, 2015

26508446 (PubMed )
Supplement: 12885_2015_1752_MOESM3_ESM.xlsx › Foglio1

Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.

Lanman RB et al.

Plos One, 2015

26474073 (PubMed )
Supplement: pone.0140712.s004.xlsx › GH_concordance_five_centers_edi

APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

Latchford A et al.

Human Molecular Genetics, 2007

Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis.

Hadjisavvas A et al.

Clinical Genetics, 2006

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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."