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TP53 R249T - Gene Variant Detail

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Gene TP53
Variant R249T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 R249T is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R249T is predicted to confer a loss of function on Tp53 in computational models (PMID: 9724739), and has been associated with secondary drug resistance in a patient (Blood 2018 132:2818), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R249T

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Transcript NM_000546.6
gDNA chr17:g.7674217C>G
cDNA c.746G>C
Protein p.R249T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38

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