Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.Y231C
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TP63

NM_003722.5:p.Y231C

Associated Papers

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review.

Yang W et al.

Molecular Genetics & Genomic Medicine, 2025

Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Li P et al.

Frontiers in Oncology, 2021

33747936 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_2

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).

Yamoto K et al.

European Journal of Human Genetics : Ejhg, 2019

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Jin JY et al.

The Journal of Gene Medicine, 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

[Genetic analysis of three families affected with split-hand/split-foot malformation].

He W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."