Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.W421*
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APC

NM_000038.6:p.W421*

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

Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort.

Sanabria-Salas MC et al.

European Journal of Human Genetics : Ejhg, 2025

Multiplexed in vivo base editing identifies functional gene-variant-context interactions.

Acosta J et al.

Biorxiv : the Preprint Server for Biology, 2025

40060482 (PubMed )
Supplement: media-4.xlsx › Table_S2A

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Molecular profiling of colorectal cancer in a genetically admixed Hispanic population.

Montes-Rodríguez IM et al.

Cancer Medicine, 2023

37039257 (PubMed )
Supplement: CAM4-12-11686-s002.xlsx › Top_mutated_genes

Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of ApcMin/+ mice.

Iizuka D et al.

Plos One, 2023

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_3.xlsx › somatic_alterations

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Dynamics of Genome Alterations in Crohn's Disease-Associated Colorectal Carcinogenesis.

Hirsch D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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

Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation.

Ioannidis O et al.

Revista Espanola De Enfermedades Digestivas, 2012

Allele-specific expression of APC in adenomatous polyposis families.

Castellsagué E et al.

Gastroenterology, 2010

Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.

Fostira F et al.

Bmc Cancer, 2010

The genomic landscapes of human breast and colorectal cancers.

Wood LD et al.

Science (new York, N.y.), 2007

17932254 (PubMed )
Supplement: 1145720s_tables.zip › 1145720tableS3.xls › Both

Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.

Rovida E et al.

Human Mutation, 2007

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1
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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."