Gene Variant Detail

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Gene TP53
Variant R181C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R181C lies within the DNA-binding domain and HIPK1, ZNF385A, FBXO42 and AXIN1-interacting region of the Tp53 protein (UniProt.org). R181C is able to transactivate the Tp53 targets p21 and PIG3, but does not transactivate other Tp53 targets including the apoptotic genes BAX and P53AIP1, and leads to decreased induction of apoptosis and enhances transformation in culture (PMID: 10229196, PMID: 20471942).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 R181C

TP53 mutant TP53 inact mut TP53 R181C

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Transcript NM_000546.6
gDNA chr17:g.7675071G>A
cDNA c.541C>T
Protein p.R181C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_000546 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675071G>A c.541C>T p.R181C RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References