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| Gene | TP53 |
| Variant | H193D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | TP53 H193D lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). H193D results in decreased transcriptional activity in patient-derived cells in culture (PMID: 28369373), but has not been fully biochemically characterized and therefore, its effect on Tp53 protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
TP53 mutant TP53 exon6 TP53 H193D |
| Transcript | NM_000546.6 |
| gDNA | chr17:g.7674954G>C |
| cDNA | c.577C>G |
| Protein | p.H193D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001126113.3 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001407268.1 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001407266.1 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001126112.3 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001407262.1 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001407264.1 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001126114.3 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_001407270.1 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| NM_000546.6 | chr17:g.7674954G>C | c.577C>G | p.H193D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| TP53 H193D | unknown |