Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L93F
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APC

NM_000038.6:p.L93F

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

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

Bernabéu-Herrero ME et al.

Blood, 2024

38457357 (PubMed )
Supplement: BLOOD_BLD-2023-021777-mmc1.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
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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."