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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 |
Transcript | NM_000546.6 |
gDNA | chr17:g.7670678A>T |
cDNA | c.1031T>A |
Protein | p.L344Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |