Varaico: Literature-Extracted Genetic Variants

Gene:TP53AIP1
Variant:p.Q22fs
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TP53AIP1

NM_022112.3:p.Q22fs

Associated Papers

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Khan TN et al.

Human Mutation, 2025

40860288 (PubMed )
Supplement: 5530710.f1.zip › Khan_et_al__Supplementary_Table_3_R3_ES.pdf

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

Germline mutations in apoptosis pathway genes in ovarian cancer; the functional role of a TP53I3 (PIG3) variant in ROS production and DNA repair.

Chaudhry SR et al.

Cell Death Discovery, 2021

Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.

Abdel-Rahman MH et al.

Ophthalmology, 2020

Prostate cancer risk is not altered by TP53AIP1 germline mutations in a German case-control series.

Luedeke M et al.

Plos One, 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."