Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.H2623Y
Back to variants list

BRCA2

NM_000059.4:p.H2623Y

Associated Papers

Precision screening facilitates clinical classification of BRCA2-PALB2 binding variants with benign and pathogenic functional effects.

Bose M et al.

The Journal of Clinical Investigation, 2025

Saturation genome editing-based clinical classification of BRCA2 variants.

Sahu S et al.

Nature, 2025

Functional evaluation and clinical classification of BRCA2 variants.

Huang H et al.

Nature, 2025

39779857 (PubMed )
Supplement: 41586_2024_8388_MOESM3_ESM.xlsx › Table_S4A

Whole-exome sequencing in Saudi colorectal cancer patients reveals distinct mutational patterns and population specific pathogenic variants.

Alatwi HE et al.

Frontiers in Oncology, 2025

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 › BRCA2

In silico and structure-based assessment to classify VUS identified in the α-helical domain of BRCA2.

Khan MA et al.

Journal of Biomolecular Structure & Dynamics, 2023

36404616 (PubMed )
Supplement: supplement_1.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 › BRCA2_inSilico_PCs___AGVGD

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Hart SN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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."