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TP53 C135Afs*35 - Gene Variant Detail

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Gene TP53
Variant C135Afs*35
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C135Afs*35 indicates a shift in the reading frame starting at amino acid 135 and terminating 35 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). C135Afs*35 has not been biochemically characterized however, due to the effects of truncation mutations downstream of C135 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 C135fs TP53 C135Afs*35

TP53 mutant TP53 inact mut TP53 C135fs TP53 C135Afs*35

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Transcript NM_000546.6
gDNA chr17:g.7675212delA
cDNA c.403delT
Protein p.C135Afs*35
Source Database RefSeq
Genome Build GRCh38/hg38

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