Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E109K
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APC

NM_000038.6:p.E109K

Associated Papers

Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.

Padmanarayana M et al.

Biorxiv : the Preprint Server for Biology, 2025

41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen

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 › c_Pred-data

Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Thompson JC et al.

Jto Clinical and Research Reports, 2022

35392653 (PubMed )
Supplement: mmc3.xlsx › All_data

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Lefevre JH et al.

Journal of Human Genetics, 2012

Haplotype analysis of ABCB1/MDR1 blocks in a Japanese population reveals genotype-dependent renal clearance of irinotecan.

Sai K et al.

Pharmacogenetics, 2003

Germline mutations of EXO1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms.

Wu Y et al.

Gastroenterology, 2001

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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."