Gene: TP53 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934571
rs28934571
TP53
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912654
rs121912654
TP53
A 0.720 CausalMutation CLINVAR

dbSNP: rs28934578
rs28934578
TP53
T 0.710 CausalMutation CLINVAR

dbSNP: rs1131691003
rs1131691003
TP53
A 0.700 CausalMutation CLINVAR

dbSNP: rs1131691042
rs1131691042
TP53
T 0.700 CausalMutation CLINVAR

dbSNP: rs11540652
rs11540652
TP53
T 0.700 CausalMutation CLINVAR

dbSNP: rs28934576
rs28934576
TP53
T 0.700 CausalMutation CLINVAR

dbSNP: rs55832599
rs55832599
TP53
A 0.700 GeneticVariation CLINVAR

dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE HCC often harbors a TP53 (tumor protein p53) mutation at codon 249 (R249S). 21768053

2011
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE R249S mutation was detected in 6.2% and 3.4% of the HCC and non-HCC groups, respectively, which was not significantly different. 23886144

2013
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE A mutation in the tumor suppressor p53 gene resulting in an Arg-->Ser substitution in position 249 is found frequently in human hepatocellular carcinomas associated with hepatitis B infection and with aflatoxin exposure. 7605578

1995
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE A selective mutation in TP53 (AGG-->AGT at codon 249, Arg-->Ser) has been identified as a hotspot in HCCs from such areas, reflecting DNA damage caused by aflatoxin metabolites. 15095302

2004
dbSNP: rs754332870
rs754332870
TP53
0.010 GeneticVariation BEFREE Analysis of the KRAS gene showed only a G12C variation in one large cell carcinoma (LCC) patient, whereas variants were not found in adenocarcinoma (ADC) and squamous cell carcinoma (SCC) cases. 30048458

2018
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE CG and GG genotypes in rs1042522 and heterozygote and homozygote in rs2279744 were significantly associated with an elevated risk of HCC. 25412941

2014
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE Co-targeting p53-R249S and CDK4 synergistically suppresses survival of hepatocellular carcinoma cells. 31747859

2020
dbSNP: rs1457582183
rs1457582183
TP53
0.010 GeneticVariation BEFREE Complete sequence analysis of these samples demonstrated a missense mutation in exon 5 (K144I) and exon 7 (V255A) from HCC samples B6-21 and B6-2, respectively. 10340391

1999
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE Droplet digital PCR detects high rate of TP53 R249S mutants in cell-free DNA of middle African patients with hepatocellular carcinoma. 29749584

2018
dbSNP: rs121912656
rs121912656
TP53
0.710 GeneticVariation BEFREE Furthermore, p53(G245D) was shown to have a similar pattern of subcellular localization to ZBP-89 in tissues of HCC patients in Hong Kong. 22214764

2012
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE Furthermore, TP53 mutations were associated with shorter survival only in HBV-related HCC (p=0.02) whereas R249S mutations were identified exclusively in migrants. 25021421

2015
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE Here we report a unique mechanism underlying the GOF of p53-R249S (p53-RS), a p53 mutant frequently detected in human hepatocellular carcinoma (HCC) that is highly related to hepatitis B infection and aflatoxin B1. 29225033

2017
dbSNP: rs28934571
rs28934571
TP53
0.800 GeneticVariation BEFREE Here, we summarize the mechanisms of R249S formation and the possible role of p.R249S protein in HCC pathogenesis. 19376640

2009
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs1131691014
rs1131691014
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs878854066
rs878854066
TP53
0.100 GeneticVariation BEFREE Homozygosity for Pro of p53 Arg72Pro is potentially one of the genetic risk factors for HCC in Chinese population. 15633234

2005
dbSNP: rs1042522
rs1042522
TP53
0.100 GeneticVariation BEFREE However, we did not find any main effect of TP53 Arg72Pro on HCC risk in this population. 20309940

2011