Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.R361Q
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ABRAXAS1

NM_139076.3:p.R361Q

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways-lessons from breast cancer patients.

Sachsenweger J et al.

Cell Death & Disease, 2023

BRCA1-A and BRISC: Multifunctional Molecular Machines for Ubiquitin Signaling.

Rabl J

Biomolecules, 2020

BRCA1 mislocalization leads to aberrant DNA damage response in heterozygous ABRAXAS1 mutation carrier cells.

Bose M et al.

Human Molecular Genetics, 2019

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Hamdi Y et al.

Oncotarget, 2016

Genetic evaluation of BRCA1 associated a complex genes with triple-negative breast cancer susceptibility in Chinese women.

Ling H et al.

Oncotarget, 2016

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.

Renault AL et al.

Plos One, 2016

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25503501 (PubMed )
Supplement: NIHMS641969-supplement-Supplementary_Table_1.xls › Sheet1

Mislocalization of BRCA1-complex due to ABRAXAS Arg361Gln mutation.

Vikrant et al.

Journal of Biomolecular Structure & Dynamics, 2015

The BRCA1-interacting protein Abraxas is required for genomic stability and tumor suppression.

Castillo A et al.

Cell Reports, 2014

Hereditary breast cancer: the era of new susceptibility genes.

Apostolou P et al.

Biomed Research International, 2013

Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions.

Solyom S et al.

Science Translational Medicine, 2012

[Familial breast cancer-susceptibility genes].

Ma Y et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 1997

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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."