Gene Variant Detail

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Gene TP53
Variant T253I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 T253I lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). T253I results in temperature-sensitive conformational change in Tp53 protein (PMID: 14559903), and increased protein stability in combination with Y236F in an in vitro assay (PMID: 16461916), but has not been fully biochemically characterized, and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 T253I

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Transcript NM_000546.6
gDNA chr17:g.7674205G>A
cDNA c.758C>T
Protein p.T253I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407268.1 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_000546 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674205G>A c.758C>T p.T253I RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674205G>A c.758C>T p.T253I 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries