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TP53 P82Rfs*41 - Gene Variant Detail

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Gene TP53
Variant P82Rfs*41
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 P82Rfs*41 indicates a shift in the reading frame starting at amino acid 82 and terminating 41 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). P82Rfs*41 has not been biochemically characterized however, due to the effects of truncation mutations downstream of P82 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon4 TP53 P82Rfs*41

TP53 mutant TP53 inact mut TP53 P82Rfs*41

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Transcript NM_000546.6
gDNA chr17:g.7676125delG
cDNA c.245delC
Protein p.P82Rfs*41
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546.5 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_000546 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126114 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126112 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126113 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7676125delG c.245delC p.P82Rfs*41 RefSeq GRCh38/hg38

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