Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.A187A
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TP63

NM_003722.5:p.A187A

Associated Papers

Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools.

Akter S et al.

Biomolecules, 2021

34827731 (PubMed )
Supplement: biomolecules-11-01733-s001.zip › biomolecules-1441232-supplementary.pdf

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

Structural basis of p63α SAM domain mutants involved in AEC syndrome.

Sathyamurthy A et al.

The Febs Journal, 2011

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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."