Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R230C
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APC

NM_000038.6:p.R230C

Associated Papers

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

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

Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Chrysafi P et al.

Cancers, 2023

Pan-cancer clinical impact of latent drivers from double mutations.

Yavuz BR et al.

Communications Biology, 2023

36808143 (PubMed )
Supplement: 42003_2023_4519_MOESM3_ESM.xlsx › VariantClasses

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2C

Characterization of Blood-Based Molecular Profiling in Pancreatic Adenocarcinoma.

Chung C et al.

Oncology (williston Park, N.y.), 2021

Differences in Somatic Mutation Profiles between Korean Gastric Cancer and Gastric Adenoma Patients.

Lee SW et al.

Journal of Clinical Medicine, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Fan Y et al.

Molecular Oncology, 2020

32478891 (PubMed )
Supplement: MOL2-14-1731-s002.xlsx › Sheet1

Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Boot A et al.

Genome Research, 2020

32661091 (PubMed )
Supplement: supp_gr.255620.119_Supplemental_Table_S2.xlsx › Sheet1

The Somatic Mutation Hit on Top of Genetic APC mutations Cause Skin Tumor.

Niu T et al.

Translational Oncology, 2020

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

Miceli F et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

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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."