Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L574I
Back to variants list

BRCA1

NM_007294.4:p.L574I

Associated Papers

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited

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

Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

Damiola F et al.

Breast Cancer Research : Bcr, 2014

24894818 (PubMed )
Supplement: bcr3669-S1.xlsx › MRN_Combi_Rare__0.1__
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."