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Gene | TP53 |
Variant | L252_I254del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 L252_I254del results in the deletion of three amino acids in the DNA-binding region of the Tp53 protein from amino acids 252 to 254 (UniProt.org). L252_I254del has been identified in sequencing studies (PMID: 27756888, PMID: 32453797), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jul 2025). |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon7 TP53 L252_I254del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674206_7674214delTGAGGATGG |
cDNA | c.754_762delCTCACCATC |
Protein | p.L252_I254del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |