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TP53 I195* - Gene Variant Detail

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Gene TP53
Variant I195*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 I195* results in a premature truncation of the Tp53 protein at amino acid 195 of 393 (UniProt.org). I195* has not been biochemically characterized however, due to the effects of truncation mutations downstream of I195 (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 I195*

TP53 mutant TP53 inact mut TP53 I195*

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Transcript NM_000546.6
gDNA chr17:g.7674946_7674948delATCinsTAA
cDNA c.583_585delATCinsTAA
Protein p.I195*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407264.1 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674946_7674948delGATinsTTA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_000546 chr17:g.7674946_7674948delGATinsTTA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674946_7674948delGATinsTTA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674946_7674948delGATinsTTA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674946_7674948delATCinsTAA c.583_585delATCinsTAA p.I195* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TP53 I195* TP53 R248Q ovarian carcinoma sensitive ReACp53 Preclinical Actionable In a preclinical study, ReACp53 induced cell death and decreased proliferation of human primary ovarian carcinoma cells harboring both TP53 I195* and TP53 R248Q in culture (PMID: 26748848). 26748848