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Gene TP53
Variant L348A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 L348A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L348A results in altered oligomerization of Tp53 in in vitro assays, increased Mdm2-mediated degradation, and decreased Tp53 ubiquitination in cultured cells (PMID: 29549180), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 L348A

TP53 mutant TP53 inact mut TP53 L348A

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Transcript NM_000546.6
gDNA chr17:g.7670666_7670667delTTinsGC
cDNA c.1042_1043delTTinsGC
Protein p.L348A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407266.1 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7670666_7670667delTTinsGC c.1042_1043delTTinsGC p.L348A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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