Varaico: Literature-Extracted Genetic Variants

Gene:CTNNA1
Variant:p.Q675*
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CTNNA1

NM_001903.5:p.Q675*

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

A protocol for karyotyping and genetic editing of induced pluripotent stem cells with homology-directed repair mediated CRISPR/Cas9.

Lobo S et al.

Biology Methods & Protocols, 2025

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

Coudert M et al.

Journal of Medical Genetics, 2022

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.

Clark DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Benusiglio PR et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019

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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."