Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E48K
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BRCA2

NM_000059.4:p.E48K

Associated Papers

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

Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Ren M et al.

Breast Cancer Research and Treatment, 2021

34196900 (PubMed )
Supplement: 10549_2021_6305_MOESM1_ESM.xlsx › Supplemental_Table_3

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Tubeuf H et al.

Cancer Research, 2020

Splicing and cancer: Challenges and opportunities.

Coltri PP et al.

Wiley Interdisciplinary Reviews. Rna, 2019

Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.

Pain M et al.

Oncotarget, 2018

OutLyzer: software for extracting low-allele-frequency tumor mutations from sequencing background noise in clinical practice.

Muller E et al.

Oncotarget, 2016

27825131 (PubMed )
Supplement: oncotarget-07-79485-s002.pdf

No evidence for breast cancer susceptibility associated with variants of BRD7, a component of p53 and BRCA1 pathways.

Penkert J et al.

Familial Cancer, 2012

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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."