Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R314Q
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APC

NM_001127511.3:p.R314Q

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

Deciphering DNA repair gene mutational landscape in uterine corpus endometrial carcinoma patients using next generation sequencing.

Lou J et al.

American Journal of Cancer Research, 2024

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

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

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Pembrolizumab for metastatic adrenocortical carcinoma with high mutational burden: Two case reports.

Mota JM et al.

Medicine, 2018

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Porkka N et al.

Oncotarget, 2017

29296220 (PubMed )
Supplement: oncotarget-08-108020-s006.xlsx › Sheet1

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

Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.

Kalbfleisch T et al.

F1000research, 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."