Gene: TP53 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782144
rs587782144
TP53
T 0.810 GeneticVariation CLINVAR Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. 21601526

2011
dbSNP: rs11540652
rs11540652
TP53
G 0.800 GeneticVariation CLINVAR

dbSNP: rs121912652
rs121912652
TP53
T 0.800 GeneticVariation CLINVAR Comprehensive mutational scanning of the p53 coding region by two-dimensional gene scanning. 9667734

1998
dbSNP: rs121912652
rs121912652
TP53
T 0.800 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs121912652
rs121912652
TP53
T 0.800 GeneticVariation CLINVAR Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990
dbSNP: rs121912652
rs121912652
TP53
T 0.800 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121912656
rs121912656
TP53
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121912662
rs121912662
TP53
G 0.800 GeneticVariation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432

2010
dbSNP: rs121912662
rs121912662
TP53
G 0.800 GeneticVariation CLINVAR Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members. 9704930

1998
dbSNP: rs121912662
rs121912662
TP53
G 0.800 GeneticVariation CLINVAR A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. 8649785

1996
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709

2007
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR Gastric cancer in individuals with Li-Fraumeni syndrome. 21552135

2011
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR Severe, progressive herpetic whitlow caused by an acyclovir-resistant virus in a patient with AIDS. 2826609

1988
dbSNP: rs121913343
rs121913343
TP53
A 0.800 GeneticVariation CLINVAR Distinct residues of human p53 implicated in binding to DNA, simian virus 40 large T antigen, 53BP1, and 53BP2. 7969167

1994
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings. 8479749

1993
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome. 17540308

2007
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609

2003
dbSNP: rs121913343
rs121913343
TP53
T 0.800 GeneticVariation CLINVAR "Apparently ""BRCA-related"" breast and ovarian cancer patient with germline TP53 mutation." 21535297

2011
dbSNP: rs121913343
rs121913343
TP53
A 0.800 GeneticVariation CLINVAR High frequency of de novo mutations in Li-Fraumeni syndrome. 19556618

2009
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334

2011
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Specific TP53 Mutants Overrepresented in Ovarian Cancer Impact CNV, TP53 Activity, Responses to Nutlin-3a, and Cell Survival. 26585234

2015
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India. 26911350

2016
dbSNP: rs28934573
rs28934573
TP53
C 0.800 GeneticVariation CLINVAR Evaluation of arrayed primer extension for TP53 mutation detection in breast and ovarian carcinomas. 16312222

2005
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Li-Fraumeni syndrome with simultaneous osteosarcoma and liver cancer: increased expression of a CD44 variant isoform after chemotherapy. 23031740

2012
dbSNP: rs28934573
rs28934573
TP53
A 0.800 GeneticVariation CLINVAR Analysis of the DNA-binding activity of p53 mutants using functional protein microarrays and its relationship to transcriptional activation. 20128691

2010