Gene: TP53 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912663
rs121912663
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR Tetramer formation of tumor suppressor protein p53: Structure, function, and applications. 26572807

2016
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. 21192060

2011
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. 11753428

2002
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR R337H mutation of the TP53 gene as a clinical marker in cancer patients: a systematic review of literature. 26681051

2015
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 16033918

2006
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. 27223487

2016
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR Occurrence of Neuroblastoma among TP53 p.R337H Carriers. 26452166

2015
dbSNP: rs121912664
rs121912664
TP53
T 0.700 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
TP53
T 0.700 CausalMutation CLINVAR Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening? 19717094

2009
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995

2007
dbSNP: rs121912664
rs121912664
TP53
T 0.700 CausalMutation CLINVAR The Inherited p53 Mutation in the Brazilian Population. 27663983

2016
dbSNP: rs121912666
rs121912666
TP53
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913343
rs121913343
TP53
A 0.700 CausalMutation CLINVAR A patient with 17 primary tumours and a germ line mutation in TP53: tumour induction by adjuvant therapy? 11315715

2000
dbSNP: rs121913343
rs121913343
TP53
A 0.700 CausalMutation CLINVAR P53 germline mutations in childhood cancers and cancer risk for carrier individuals. 10864200

2000
dbSNP: rs121913343
rs121913343
TP53
A 0.700 CausalMutation CLINVAR Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families. 18511570

2008
dbSNP: rs121913343
rs121913343
TP53
A 0.700 CausalMutation CLINVAR The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. 23161690

2013
dbSNP: rs121913343
rs121913343
TP53
A 0.700 CausalMutation CLINVAR Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome. 11494139

2001
dbSNP: rs1555526097
rs1555526097
TP53
A 0.700 GeneticVariation CLINVAR Genetic mutations of p53 and k-ras in gastric carcinoma patients from Hunan, China. 21080251

2011
dbSNP: rs1555527002
rs1555527002
TP53
AG 0.700 GeneticVariation CLINVAR

dbSNP: rs17882252
rs17882252
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs201753350
rs201753350
TP53
T 0.700 GeneticVariation CLINVAR Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population. 17690113

2007
dbSNP: rs28934574
rs28934574
TP53
A 0.700 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143

1992
dbSNP: rs28934574
rs28934574
TP53
A 0.700 CausalMutation CLINVAR Heterogeneity of Li-Fraumeni syndrome links to unequal gain-of-function effects of p53 mutations. 24573247

2014