Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S242N
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BRCA1

NM_007294.4:p.S242N

Associated Papers

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Demir O et al.

American Journal of Medical Genetics. Part A, 2024

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3B_EC_data

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

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1

Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.

Hamid AB et al.

Plos One, 2022

36107942 (PubMed )
Supplement: pone.0273736.s005.xlsx › Lollipop_input

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

Tumbale P et al.

The Embo Journal, 2018

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