Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.C645R
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BARD1

NM_000465.4:p.C645R

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

The BRCA1/BARD1 complex recognizes pre-ribosomal RNA to facilitate homologous recombination.

Wu D et al.

Cell Discovery, 2023

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Keskin Karakoyun H et al.

Frontiers in Genetics, 2023

36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant

Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Alenezi WM et al.

Genes, 2020

32726901 (PubMed )
Supplement: genes-11-00856-s001.zip › 2020.07.24_V11_Supplementary_Table_FINAL_no_references.xlsx › Table

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

Otsuka K et al.

Genes, 2020

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

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

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Deciphering the BRCA1 Tumor Suppressor Network.

Jiang Q et al.

The Journal of Biological Chemistry, 2015

Deriving a mutation index of carcinogenicity using protein structure and protein interfaces.

Espinosa O et al.

Plos One, 2014

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

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

De Brakeleer S et al.

Human Mutation, 2010

Crystal structure of the BARD1 BRCT domains.

Birrane G et al.

Biochemistry, 2007

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

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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."