Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.V695L
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BARD1

NM_000465.4:p.V695L

Associated Papers

Computational studies on the functional and structural impact of pathogenic mutations in enzymes.

Dissanayake UC et al.

Protein Science : a Publication of the Protein Society, 2025

Functional Analysis of BARD1 Missense Variants on Homology-Directed Repair in Ovarian and Breast Cancers.

Li W et al.

Molecular Carcinogenesis, 2025

BARD1 is an ATPase activating protein for OLA1.

Chen T et al.

Biochimica Et Biophysica Acta. General Subjects, 2022

Dysregulation of the centrosome induced by BRCA1 deficiency contributes to tissue-specific carcinogenesis.

Yoshino Y et al.

Cancer Science, 2021

The Function of BARD1 in Centrosome Regulation in Cooperation with BRCA1/OLA1/RACK1.

Otsuka K et al.

Genes, 2020

The WD40 domain of FBXW7 is a poly(ADP-ribose)-binding domain that mediates the early DNA damage response.

Zhang Q et al.

Nucleic Acids Research, 2019

Functional analysis of BARD1 missense variants in homology-directed repair and damage sensitivity.

Adamovich AI et al.

Plos Genetics, 2019

BRCA1-Interacting Protein OLA1 Requires Interaction with BARD1 to Regulate Centrosome Number.

Yoshino Y et al.

Molecular Cancer Research : Mcr, 2018

Biophysical evaluation to categorize pathogenicity of cancer-predisposing mutations identified in the BARD1 BRCT domain.

Choudhary RK et al.

Rsc Advances, 2018

New concepts on BARD1: Regulator of BRCA pathways and beyond.

Irminger-Finger I et al.

The International Journal of Biochemistry & Cell Biology, 2016

Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Lee C et al.

Human Mutation, 2015

Deciphering the BRCA1 Tumor Suppressor Network.

Jiang Q et al.

The Journal of Biological Chemistry, 2015

Function of BRCA1 in the DNA damage response is mediated by ADP-ribosylation.

Li M et al.

Cancer Cell, 2013

Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.

Alshatwi AA et al.

Plos One, 2012

Thermodynamic study of the BRCT domain of BARD1 and its interaction with the -pSER-X-X-Phe- motif-containing BRIP1 peptide.

Thanassoulas A et al.

Biochimica Et Biophysica Acta, 2010

Oncogenic BARD1 isoforms expressed in gynecological cancers.

Li L et al.

Cancer Research, 2007

Structural requirements for the BARD1 tumor suppressor in chromosomal stability and homology-directed DNA repair.

Laufer M et al.

The Journal of Biological Chemistry, 2007

Crystal structure of the BARD1 BRCT domains.

Birrane G et al.

Biochemistry, 2007

Is there more to BARD1 than BRCA1?

Irminger-Finger I et al.

Nature Reviews. Cancer, 2006

Role for a Bard1 SNP in Breast Cancer Susceptibility.

Alonso JMF

Ejifcc, 2005

Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer.

Sauer MK et al.

Journal of Medical Genetics, 2005

Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations.

Ghimenti C et al.

Genes, Chromosomes & Cancer, 2002

Conservation of function and primary structure in the BRCA1-associated RING domain (BARD1) protein.

Ayi TC et al.

Oncogene, 1998

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.

Thai TH et al.

Human Molecular Genetics, 1998

[Molecular-genetic disruption in area near the BRCA1 gene, associated with ovarian carcinoma].

El'cheva IA et al.

Molekuliarnaia Biologiia, 0

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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."