Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1738A
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BRCA1

NM_007294.4:p.G1738A

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

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence.

Ramadane-Morchadi L et al.

American Journal of Human Genetics, 2025

40233743 (PubMed )
Supplement: mmc2.xlsx › Hoja1

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

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

Sinha S et al.

Computational and Structural Biotechnology Journal, 2020

32257056 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

Fernandes VC et al.

The Journal of Biological Chemistry, 2019

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Niyomnaitham S et al.

Peerj, 2019

30828495 (PubMed )
Supplement: peerj-07-6501-s001.xlsx › BRCA1
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