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Gene | TP53 |
Variant | E346* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 E346* results in a premature truncation of the Tp53 protein at amino acid 346 of 393 (UniProt.org). E346* has been identified in sequencing studies (PMID: 17289876, PMID: 28548125), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon10 TP53 E346* |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670673C>A |
cDNA | c.1036G>T |
Protein | p.E346* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |