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TP53 R248L - Gene Variant Detail

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Gene TP53
Variant R248L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 R248L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248L results in decreased Tp53 transactivation and repression, and resistance to apoptosis in cell culture (PMID: 8336941, PMID: 20570896, PMID: 18566217).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R248L

TP53 mutant TP53 inact mut TP53 R248L

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Transcript NM_000546.6
gDNA chr17:g.7674220C>A
cDNA c.743G>T
Protein p.R248L
Source Database RefSeq
Genome Build GRCh38/hg38

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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