Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA1
Variant:p.R129*
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CTNNA1

NM_001903.5:p.R129*

Associated Papers

Variant-specific functional effects of CTNNA1 in a humanized Drosophila model.

Lobo S et al.

European Journal of Human Genetics : Ejhg, 2026

Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.

Lobo S et al.

Gut, 2025

First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.

Coudert M et al.

Journal of Medical Genetics, 2022

Novel somatic variants in CTNNA1 gene in Iranian patients with diffuse gastric cancer.

Naghi Vishteh M et al.

Gastroenterology and Hepatology From Bed to Bench, 2021

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.

Weren RDA et al.

Journal of Medical Genetics, 2018

29330337 (PubMed )
Supplement: jmedgenet-2017-104962supp001.docx

αE-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer.

de Groot JS et al.

The Journal of Pathology, 2018

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon

Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network.

Slavin T et al.

Cancer Genetics, 2017

Genetic predisposition to gastric cancer.

Petrovchich I et al.

Seminars in Oncology, 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."