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Gene | TP53 |
Variant | G360V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | TP53 G360V lies within the CARM1, HIPK1, HIPK2, and USP7-interacting regions of the Tp53 protein (UniProt.org). G360V results in colony growth similar to wild-type Tp53 (PMID: 33257846), but demonstrates increased transactivation of Tp53 response elements, decreased colony growth, and increased apoptosis in cultured cells in another study (PMID: 27297285), and therefore, is predicted to lead to a gain of Tp53 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 act mut TP53 G360V TP53 mutant TP53 exon10 TP53 G360V |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670630C>A |
cDNA | c.1079G>T |
Protein | p.G360V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7670630C>A | c.1079G>T | p.G360V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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