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TP53 P219fs - Gene Variant Detail

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Gene TP53
Variant P219fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 P219fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 219 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). P219fs results in complete loss of Tp53 expression in patient cells (PMID: 25231023), and due to the effects of truncation mutations downstream of P219 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon6 TP53 P219fs

TP53 mutant TP53 inact mut TP53 P219fs

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Transcript NM_000546.6
gDNA chr17:g.(7674876_7674877)
cDNA c.(655_654)
Protein p.P219fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407264.1 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126113 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7674876_7674877) c.(655_654) p.P219fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7674876_7674877) c.(655_654) p.P219fs 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
TP53 P219fs loss of function - predicted p53 Activator p53 Gene Therapy