Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H1805L
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BRCA1

NM_007294.4:p.H1805L

Associated Papers

Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.

Mangkusaputra V et al.

Nucleic Acids Research, 2025

40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

Assessment of small in-frame indels and C-terminal nonsense variants of BRCA1 using a validated functional assay.

Nepomuceno TC et al.

Scientific Reports, 2022

36171434 (PubMed )
Supplement: 41598_2022_20500_MOESM1_ESM.pdf

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.

Iversen ES et al.

Npj Genomic Medicine, 2022

35665744 (PubMed )
Supplement: 41525_2022_302_MOESM3_ESM.xlsx › BRCA1_inSilico_PCs___AGVGD

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

Woods NT et al.

Npj Genomic Medicine, 2016

28781887 (PubMed )
Supplement: npjgenmed20161-s1.pdf

Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Carvalho RS et al.

Plos One, 2014

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