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Gene Variant Detail

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Gene TP53
Variant C275Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C275Y lies within the DNA-binding domain of the Tp53 protein (UniProt.org). C275Y is predicted to confer a loss of function to Tp53, as it results in decreased activation of the Tp53 target p21, and is associated with increased glycolysis in cell culture (PMID: 28993478).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 C275Y

TP53 mutant TP53 inact mut TP53 C275Y

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Transcript NM_000546.6
gDNA chr17:g.7673796C>T
cDNA c.824G>A
Protein p.C275Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000546 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673796C>T c.824G>A p.C275Y RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References