Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K386R
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TP53

NM_000546.6:p.K386R

Associated Papers

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

p53 SUMOylation promotes neurogenesis defects in APP/PS1 mice.

Yin A et al.

Journal of Alzheimer's Disease : Jad, 2025

Age-related p53 SUMOylation accelerates senescence and tau pathology in Alzheimer's disease.

Wan L et al.

Cell Death and Differentiation, 2025

Structural and mechanistic diversity in p53-mediated regulation of organismal longevity across taxonomical orders.

Osbourne R et al.

Biorxiv : the Preprint Server for Biology, 2024

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Tumor Suppressor p53 Down-Regulates Programmed Cell Death Protein 4 (PDCD4) Expression.

Yang WH et al.

Current Oncology (toronto, Ont.), 2023

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_3.xlsx › Sheet1

Dysfunction of X-linked inhibitor of apoptosis protein (XIAP) triggers neuropathological processes via altered p53 activity in Huntington's disease.

Hyeon SJ et al.

Progress in Neurobiology, 2021

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › allFH_missense

Glycogen synthase kinase (GSK)-3 and the double-strand RNA-dependent kinase, PKR: When two kinases for the common good turn bad.

Piazzi M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

Heterochromatin protects retinal pigment epithelium cells from oxidative damage by silencing p53 target genes.

Gong L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29622681 (PubMed )
Supplement: pnas.201715237SI.pdf

Inhibiting p53 Acetylation Reduces Cancer Chemotoxicity.

Zheng S et al.

Cancer Research, 2017

The p53 C terminus controls site-specific DNA binding and promotes structural changes within the central DNA binding domain.

Laptenko O et al.

Molecular Cell, 2015

The nucleolar protein Myb-binding protein 1A (MYBBP1A) enhances p53 tetramerization and acetylation in response to nucleolar disruption.

Ono W et al.

The Journal of Biological Chemistry, 2014

PIASxα ligase enhances SUMO1 modification of PTEN protein as a SUMO E3 ligase.

Wang W et al.

The Journal of Biological Chemistry, 2014

p53 SUMOylation promotes its nuclear export by facilitating its release from the nuclear export receptor CRM1.

Santiago A et al.

Molecular Biology of the Cell, 2013

PIASy-mediated Tip60 sumoylation regulates p53-induced autophagy.

Naidu SR et al.

Cell Cycle (georgetown, Tex.), 2012

The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and activation, leading to G₁ arrest.

Bennett RL et al.

Cell Cycle (georgetown, Tex.), 2012

PKCζ mediates disturbed flow-induced endothelial apoptosis via p53 SUMOylation.

Heo KS et al.

The Journal of Cell Biology, 2011

p53 regulates biosynthesis through direct inactivation of glucose-6-phosphate dehydrogenase.

Jiang P et al.

Nature Cell Biology, 2011

Small ubiquitin-related modifier paralogs are indispensable but functionally redundant during early development of zebrafish.

Yuan H et al.

Cell Research, 2010

Crosstalk between sumoylation and acetylation regulates p53-dependent chromatin transcription and DNA binding.

Wu SY et al.

The Embo Journal, 2009

How important are post-translational modifications in p53 for selectivity in target-gene transcription and tumour suppression?

Olsson A et al.

Cell Death and Differentiation, 2007

SUMO-specific protease SUSP4 positively regulates p53 by promoting Mdm2 self-ubiquitination.

Lee MH et al.

Nature Cell Biology, 2006

An intact sequence-specific DNA-binding domain is required for human cytomegalovirus-mediated sequestration of p53 and may promote in vivo binding to the viral genome during infection.

Rosenke K et al.

Virology, 2006

Mdm2-mediated NEDD8 conjugation of p53 inhibits its transcriptional activity.

Xirodimas DP et al.

Cell, 2004

Functional analysis and intracellular localization of p53 modified by SUMO-1.

Kwek SS et al.

Oncogene, 2001

Regulation of p53 activity in nuclear bodies by a specific PML isoform.

Fogal V et al.

The Embo Journal, 2000

c-Jun and p53 activity is modulated by SUMO-1 modification.

Muller S et al.

The Journal of Biological Chemistry, 2000

SUMO-1 modification activates the transcriptional response of p53.

Rodriguez MS et al.

The Embo Journal, 1999

Activation of p53 by conjugation to the ubiquitin-like protein SUMO-1.

Gostissa M et al.

The Embo Journal, 1999

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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."