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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 |
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_001407262.1 | 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_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_001126112.3 | chr17:g.7670666_7670667delTTinsGC | c.1042_1043delTTinsGC | p.L348A | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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