Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000546.6
gDNA chr17:g.7674217C>G
cDNA c.746G>C
Protein p.R249T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_000546 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674217C>G c.746G>C p.R249T RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674217C>G c.746G>C p.R249T RefSeq 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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