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 N239S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 N239S lies within the DNA-binding domain of the Tp53 protein (PMID: 15510160). N239S (corresponding to N236S in mouse) results in a loss of promoter binding and transactivation of TP53 target genes in response to irradiation in mouse cells in culture, and cooperates with HRAS G12V to promote tumor formation in mouse models (PMID: 22553460).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 N239S

TP53 mutant TP53 inact mut TP53 N239S

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.7674247T>C
cDNA c.716A>G
Protein p.N239S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126114.2 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_000546 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674247T>C c.716A>G p.N239S RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674247T>C c.716A>G p.N239S 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