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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, Jan 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 L252_I254del

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Transcript NM_000546.6
gDNA chr17:g.7674206_7674214delTGAGGATGG
cDNA c.754_762delCTCACCATC
Protein p.L252_I254del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407270.1 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674206_7674214delTGAGGATGG c.754_762delCTCACCATC p.L252_I254del RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References