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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_000546.6 | 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_001407268.1 | 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_001126113.3 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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