Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1756R
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BRCA1

NM_007294.4:p.Q1756R

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 › BRCT2_ABX

Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

So MK et al.

Diagnostics (basel, Switzerland), 2024

39767183 (PubMed )
Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BRCA1

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-3.xlsx › Table_S2

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s003.xlsx › Sheet1

Artificial intelligence-based recognition for variant pathogenicity of BRCA1 using AlphaFold2-predicted structures.

Li C et al.

Theranostics, 2023

36593954 (PubMed )
Supplement: thnov13p0391s1.pdf

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis
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