Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.L290S
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BRCA1

NM_007294.4:p.L290S

Associated Papers

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s007.xlsx › Sheet1

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1

Genetic polymorphisms and gastric cancer risk: a comprehensive review synopsis from meta-analysis and genome-wide association studies.

Tian J et al.

Cancer Biology & Medicine, 2019

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

Genetic susceptibility to head and neck squamous cell carcinoma.

Lacko M et al.

International Journal of Radiation Oncology, Biology, Physics, 2014

A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

Romero A et al.

Breast Cancer Research and Treatment, 2011

Genetic variation in normal tissue toxicity induced by ionizing radiation.

Popanda O et al.

Mutation Research, 2009

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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."