Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I14L
Back to variants list

BRCA2

NM_000059.4:p.I14L

Associated Papers

The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced BRCA1 and BRCA2 splice isoforms.

Canson DM et al.

Genome Research, 2025

40769711 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › S1.splicing_results_summary

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

40232841 (PubMed )
Supplement: jci-135-181879-s033.xlsx › Supplementary_Table_4

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGABreast_HR-WT

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1

Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations.

Lal A et al.

Bmc Medical Genomics, 2019

31182087 (PubMed )
Supplement: 12920_2019_545_MOESM10_ESM.xlsx › methylation

Multi-omics profiling of younger Asian breast cancers reveals distinctive molecular signatures.

Kan Z et al.

Nature Communications, 2018

29713003 (PubMed )
Supplement: 41467_2018_4129_MOESM4_ESM.xlsx › S1
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."