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Gene | TP53 |
Variant | C238_M246del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 C238_M246del results in the deletion of nine amino acids in the DNA-binding domain of the Tp53 protein from amino acids 238 to 246 (UniProt.org). C238_M246del has been identified in sequencing studies (PMID: 11895856), 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 exon7 TP53 C238_M246del |
Transcript | NM_000546.6 |
gDNA | chr17:g.7674229_7674255del27 |
cDNA | c.712_738del27 |
Protein | p.C238_M246delCNSSCMGGM |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |