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Gene | TP53 |
Variant | H179R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | TP53 H179R lies within the DNA binding region of the Tp53 protein (UniProt.org). H179R results in a loss of Tp53 protein function as indicated by failure to activate downstream gene transcription and increased survival (PMID: 17361096, PMID: 26585234), induces cancer gene signature through activation of Ras signaling (PMID: 22427690), and increases proliferation, migration, invasion, and protein stability in culture (PMID: 37030635). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon5 TP53 H179R TP53 mutant TP53 inact mut TP53 H179R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675076T>C |
cDNA | c.536A>G |
Protein | p.H179R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |