TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.740 GeneticVariation BEFREE We therefore investigated the anti-tumor properties of a gold(I) <i>N</i>-heterocyclic carbene (NHC) complex-termed MC3-in human colorectal cancer (CRC) cell lines encompassing three different p53 variations: HCT116 wild-type (WT), HCT116 p53<sup>-/-</sup>, and HT-29 (mutant; R273H). 31231607 2019
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.740 GeneticVariation BEFREE Finally, lnc273-31 and lnc273-34 were significantly highly expressed in CRC tissues with p53-R273H mutation compared to those with wildtype p53. 31455383 2019
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.740 GeneticVariation BEFREE Our findings indicate the R270H/R273H p53 mutant protein does not manifest definite GOF biological effects in mouse and human CRCs, suggesting possible GOF effects of mutant p53 in cancer phenotypes are likely allele-specific and/or context-dependent. 31148594 2019
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
0.740 GeneticVariation BEFREE The CRC colorectal cancer (CRC) cell lines HCT116 wild-type (wt), HCT116 p53-/-, and HT-29 (mutant; R273H) were employed, covering three different p53 variations. 28618116 2017
dbSNP: rs28934576
rs28934576
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0009402
Disease:
Colorectal Carcinoma
T 0.740 CausalMutation CLINVAR