TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. 23733769 2013
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome. 21192060 2011
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Altered-function p53 missense mutations identified in breast cancers can have subtle effects on transactivation. 20407015 2010
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241 2009
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? 19717094 2009
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995 2007
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918 2006
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR Geographical variations in TP53 mutational spectrum in ovarian carcinomas. 16907706 2006
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150 2005
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma. 12209975 2002
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		G 0.900 GeneticVariation CLINVAR Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers. 10719737 2000
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200 2000
dbSNP: rs121912664
rs121912664
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.900 CausalMutation CLINVAR Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members. 9704930 1998
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644 2018
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR Mutational processes shape the landscape of TP53 mutations in human cancer. 30224644 2018
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 28349240 2017
dbSNP: rs28934578
rs28934578
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome. 27374712 2016
dbSNP: rs121912651
rs121912651
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Germline TP53 mutational spectrum in French Canadians with breast cancer. 25925845 2015
dbSNP: rs121912666
rs121912666
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		C 0.820 CausalMutation CLINVAR Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases. 24702488 2015
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. 26014290 2015
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study. 25584008 2015
dbSNP: rs121912651
rs121912651
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		A 0.820 CausalMutation CLINVAR Unequal prognostic potentials of p53 gain-of-function mutations in human cancers associate with drug-metabolizing activity. 24603336 2014
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.820 CausalMutation CLINVAR Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy. 24677579 2014