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| Gene | TP53 |
| Variant | L137Q |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | TP53 L137Q lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). L137Q results in a loss of p21 induction and anti-proliferation response in culture, and the genomic change leads to aberrant splicing and reduced mRNA level (PMID: 39774325). |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon5 TP53 L137Q TP53 mutant TP53 inact mut TP53 L137Q |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7675202A>T |
| cDNA | c.410T>A |
| Protein | p.L137Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126113.3 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001126113.2 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001126112.2 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001126114.2 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_000546.5 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7675202A>T | c.410T>A | p.L137Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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