Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.A346G
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TP63

NM_003722.5:p.A346G

Associated Papers

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Mohamed RH et al.

Cureus, 2025

Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.

Osterburg C et al.

Cell Death & Disease, 2023

37072394 (PubMed )
Supplement: 41419_2023_5796_MOESM10_ESM.xlsx › Reference_p63_mutations

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.

Xu T et al.

Bmc Medical Genomics, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.

Geng H et al.

Biomed Research International, 2020

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

Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.

Nemer G et al.

Archives of Dermatological Research, 2017

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

Alves LU et al.

Genetics and Molecular Biology, 2015

Meta-analysis and systematic review for the genetic basis of cleft lip and palate.

Alghonemy WY et al.

Journal of Oral Biology and Craniofacial Research, 0

39866383 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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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."