TP53 L344A
Gene Variant Detail

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Gene TP53
Variant L344A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 L344A lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344A results in increased binding to the N-terminal domain of Mdm2 in an in vitro assay, increased cytoplasmic localization of Tp53 in the presence of Mdm2 in cultured cells (PMID: 29549180), decreased oligomerization (PMID: 30174797), and decreased activation of the downstream target genes Mdm2, Puma, Noxa and Ddb2 in cultured cells (PMID: 24006363).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 L344A

TP53 mutant TP53 inact mut TP53 L344A

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Transcript NM_000546.6
gDNA chr17:g.7670678_7670679delCTinsGC
cDNA c.1030_1031delCTinsGC
Protein p.L344A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001276761.3 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7670678_7670679delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7669643_7669644delCTinsGC c.1030_1031delCTinsGC p.L344A RefSeq GRCh38/hg38

Filtering

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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 Protein Effect Treatment Approaches
TP53 L344A loss of function