Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1227H
Back to variants list

BRCA1

NM_007294.4:p.Q1227H

Associated Papers

Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.

Schelbert S et al.

Histopathology, 2025

40289262 (PubMed )
Supplement: HIS-87-258-s001.zip › his15458-sup-0003-Supplementary_Table_2-4_revised_changes_highlighted.xlsx › Table_S2

Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.

Benet-Pagès A et al.

Genetics in Medicine Open, 2025

40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.

Dougherty BA et al.

Oncotarget, 2017

28525389 (PubMed )
Supplement: oncotarget-08-43653-s002.docx

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."