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Gene | TP53 |
Variant | R267Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 R267Q lies within the DNA-binding domain of the Tp53 protein (UniProt.org). The functional effect of R267Q is conflicting as it has been demonstrated to result in decreased Tp53 transactivation activity in one study (PMID: 10435620), while in another study demonstrates increased activity in culture (PMID: 25584008), and results in decreased ability to suppress growth in cell culture (PMID: 10435620, PMID: 25584008), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon8 TP53 R267Q |
Transcript | NM_000546.6 |
gDNA | chr17:g.7673820C>T |
cDNA | c.800G>A |
Protein | p.R267Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407265.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276760.3 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276761 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407263.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276696 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276760.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126118 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126118.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407269.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276695.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276696.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276761.3 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126118.2 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276761.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276696.3 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276760 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126112.2 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7673820C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276695 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407271.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001276695.3 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
NM_001407267.1 | chr17:g.7673703C>T | c.800G>A | p.R267Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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