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Gene | TP53 |
Variant | R65* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | TP53 R65* results in a premature truncation of the Tp53 protein at amino acid 65 of 393 (UniProt.org). R65* has not been biochemically characterized however, due to the effects of truncation mutations downstream of R65 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 R65* TP53 mutant TP53 inact mut TP53 R65* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676176T>A |
cDNA | c.193A>T |
Protein | p.R65* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |