Gene Variant Detail

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Gene TP53
Variant C275F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 C275F lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). C275F has been identified in the scientific literature (PMID: 35155188, PMID: 37404765, PMID: 27095739), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 C275F

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Transcript NM_000546.6
gDNA chr17:g.7673796C>A
cDNA c.824G>T
Protein p.C275F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126112.2 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_000546 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673796C>A c.824G>T p.C275F RefSeq GRCh38/hg38

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  • 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