TP53 R249T
Gene Variant Detail

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Gene TP53
Variant R249T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 R249T is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 21760703). R249T is predicted to confer a loss of function on Tp53 in computational models (PMID: 9724739), and has been associated with secondary drug resistance in a patient (Blood 2018 132:2818), but has not been biochemically characterized and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 R249T

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Transcript NM_000546.6
gDNA chr17:g.7674217C>G
cDNA c.746G>C
Protein p.R249T
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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