Varaico: Literature-Extracted Genetic Variants

Gene:BARD1
Variant:p.L44R
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BARD1

NM_000465.4:p.L44R

Associated Papers

Mechanisms of synthetic lethality between BRCA1/2 and 53BP1 deficiencies and DNA polymerase theta targeting.

Ronson GE et al.

Nature Communications, 2023

38030626 (PubMed )
Supplement: 41467_2023_43677_MOESM1_ESM.pdf

RNAi Screening Uncovers a Synthetic Sick Interaction between CtIP and the BARD1 Tumor Suppressor.

Bolck HA et al.

Cells, 2022

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

Adamovich AI et al.

Plos Genetics, 2019

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.

Walker LC et al.

Frontiers in Genetics, 2019

31803232 (PubMed )
Supplement: Table_2.xlsx › Table_S2

Human BRCA1-BARD1 ubiquitin ligase activity counteracts chromatin barriers to DNA resection.

Densham RM et al.

Nature Structural & Molecular Biology, 2016

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

Lee C et al.

Human Mutation, 2015

Enhancement of BRCA1 E3 ubiquitin ligase activity through direct interaction with the BARD1 protein.

Xia Y et al.

The Journal of Biological Chemistry, 2003

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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."