Varaico: Literature-Extracted Genetic Variants

Gene:RINT1
Variant:p.P14L
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RINT1

NM_021930.6:p.P14L

Associated Papers

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants.

Li C et al.

Melanoma Research, 2020

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

33193653 (PubMed )
Supplement: Table_1.xlsx › VUS_er_klassificering

Reevaluation of RINT1 as a breast cancer predisposition gene.

Li N et al.

Breast Cancer Research and Treatment, 2016

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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."