Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L75P
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APC

NM_000038.6:p.L75P

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_ABE_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

The comprehensive review of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) from diagnosis and treatment.

Iwatsuki M et al.

Annals of Gastroenterological Surgery, 2023

Two Asian families with gastric adenocarcinoma and proximal polyposis of the stomach successfully treated via laparoscopic total gastrectomy.

Kanemitsu K et al.

Clinical Journal of Gastroenterology, 2021

First report of an Asian family with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) revealed with the germline mutation of the APC exon 1B promoter region.

Mitsui Y et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2018

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J et al.

American Journal of Human Genetics, 2016

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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."