Varaico: Literature-Extracted Genetic Variants

Gene:TP63
Variant:p.C308Y
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TP63

NM_003722.5:p.C308Y

Associated Papers

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 › p63_mutations

Mutation patterns in recurrent and/or metastatic oropharyngeal squamous cell carcinomas in relation to human papillomavirus status.

Reder H et al.

Cancer Medicine, 2021

33527763 (PubMed )
Supplement: CAM4-10-1347-s006.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

Shaping the regulation of the p53 mRNA tumour suppressor: the co-evolution of genetic signatures.

Karakostis K et al.

Bmc Cancer, 2019

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

A newborn with overlapping features of AEC and EEC syndromes.

Celik TH et al.

American Journal of Medical Genetics. Part A, 2011

First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.

Levy R et al.

Human Mutation, 2011

21898656 (PubMed )
Supplement: supplement_1.pdf

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H et al.

American Journal of Human Genetics, 2001

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