P53基因编码的是分子量约为53kDa的蛋白，P35根据其分子量大小命名的，首次是在1979年发现致瘤病毒SV40可以与该蛋白形成复合物，并且将克隆得到p53转入到细胞可引起细胞癌变，所以最初的10年普遍认为p53是抑癌基因。 后来发现之前肿瘤细胞来源的p53基因突变体能够促使细胞发生转化，而野生型的p53基因则不具备这项功能，事实上p53是一个最重要的抑癌基因，该基因的异常与超过半数的肿瘤相关。 p53最突出特点就是它是一个转录因子，这些靶基因中有很多都与 …

TP53 Y205* results in a premature truncation of the Tp53 protein at amino acid 205 of 393 (UniProt.org). Y205* has not been biochemically characterized however, due to the effects of …

Explore data for TP53 tumor variants identified in human tumor samples. Includes data on the type and position of variants, detailed information on the tumor in which the variants have been found, and on various characteristics of the patients in which the tumor developed.

2024年11月10日 · Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration. The effect of the variant on RNA or protein function, based on experimental evidence from submitters. The global minor allele frequency calculated by the …

2023年12月25日 · The p.Y205* pathogenic mutation (also known as c.615T>A) located in coding exon 5 of the TP53 gene, results from a T to A substitution at nucleotide position 615. This changes the amino acid from a tyrosine to a stop codon within coding exon 5.

Genomic mutation identifier (COSV) to indicate the definitive position of the variant on the genome. This identifier is trackable and stable between different versions of the release. Also, this identifier remains the same between different assemblies (GRCh37 and GRCh38).

2025年1月1日 · In this review, we summarize the development of novel TP53 reactivators and MDM2 inhibitors. Both approaches are aimed at increasing or restoring TP53 activity. Attempts to increase TP53 activity in various TP53 mutant tumors …

2024年12月25日 · TP53 (Tumor Protein P53) is a Protein Coding gene. Diseases associated with TP53 include Li-Fraumeni Syndrome and Papilloma Of Choroid Plexus. Among its related pathways are Toll Like Receptor 7/8 (TLR7/8) Cascade and Regulation of activated PAK-2p34 by proteasome mediated degradation.

2025年1月9日 · 为了深入探究这些突变的功能多样性，1月7日Nature Genetics的研究报道“Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations”，利用CRISPR基因编辑技术，系统性地筛选了9225种TP53基因变体。

2025年1月7日 · To fully leverage TP53 mutation status for personalized medicine, a thorough understanding of the functional diversity of these mutations is essential. We conducted a deep mutational scan using...