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Gene TP53
Variant L344Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 L344Q lies within the tetramerization domain of the Tp53 protein (PMID: 20978130). L344Q results in decreased Tp53 oligomer formation and transcriptional activity in yeast (PMID: 16007150), and the corresponding canine variant (L332Q) demonstrates impaired tetramerization, but not dimerization (PMID: 29750295), and therefore, is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon10 TP53 L344Q

TP53 mutant TP53 inact mut TP53 L344Q

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Transcript NM_000546.6
gDNA chr17:g.7670678A>T
cDNA c.1031T>A
Protein p.L344Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001276761.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001276761 chr17:g.7669642_7669643delGAinsTT c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001126118 chr17:g.7669642_7669643delGAinsTT c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_000546 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001276760 chr17:g.7669642_7669643delGAinsTT c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7669642_7669643delTCinsAA c.1031_1032delTCinsAA p.L344Q RefSeq GRCh38/hg38
NM_001126112 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7670678A>T c.1031T>A p.L344Q RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries