Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1748C
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BRCA1

NM_007294.4:p.G1748C

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

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data3_TARGET_CPG_list

Clinicopathological characteristics and eligibility for adjuvant olaparib of germline BRCA1/2 mutation carriers with HER2-negative early breast cancer.

Morganti S et al.

Npj Breast Cancer, 2024

38627457 (PubMed )
Supplement: 41523_2024_632_MOESM1_ESM.pdf

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

BRCA1 frameshift variants leading to extended incorrect protein C termini.

Nepomuceno TC et al.

Hgg Advances, 2023

37718511 (PubMed )
Supplement: mmc1.pdf

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

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

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

Classification of VUS and unclassified variants in BRCA1 BRCT repeats by molecular dynamics simulation.

Sinha S et al.

Computational and Structural Biotechnology Journal, 2020

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