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Gene | TP53 |
Variant | L130I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 L130I lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L130I has been identified in sequencing studies (PMID: 28949453, PMID: 26319365, PMID: 31754145), 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 exon5 TP53 L130I |
Transcript | NM_000546.6 |
gDNA | chr17:g.7675224G>T |
cDNA | c.388C>A |
Protein | p.L130I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |