Varaico: Literature-Extracted Genetic Variants

Gene:RAD51C
Variant:p.R214C
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RAD51C

NM_058216.3:p.R214C

Associated Papers

[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].

Pacheco-Orozco RA et al.

Andes Pediatrica : Revista Chilena De Pediatria, 2024

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Hu C et al.

Cancer Research, 2023

Clinical outcome and biomarker assessments of a multi-centre phase II trial assessing niraparib with or without dostarlimab in recurrent endometrial carcinoma.

Madariaga A et al.

Nature Communications, 2023

36922497 (PubMed )
Supplement: 41467_2023_37084_MOESM1_ESM.pdf

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

Gayarre J et al.

British Journal of Cancer, 2017

Genetic testing for RAD51C mutations: in the clinic and community.

Sopik V et al.

Clinical Genetics, 2015

Germline mutations in RAD51C in Jewish high cancer risk families.

Kushnir A et al.

Breast Cancer Research and Treatment, 2012

RAD51C germline mutations in breast and ovarian cancer cases from high-risk families.

Clague J et al.

Plos One, 2011

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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."