Gene Variant Detail

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Gene TP53
Variant C238Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TP53 C238Y lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). C238Y demonstrates binding to MDM2 and phosphorylation at Serine 15, results in transactivation the Tp53 target gene p21 similar to wild-type Tp53 in cell culture, and does not significantly alter Tp53 structure in molecular models (PMID: 16818505), however, results in aberrant transactivation of Ctnnb1 in culture (PMID: 37537199), and therefore, its effect on Tp53 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 C238Y

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Transcript NM_000546.6
gDNA chr17:g.7674250C>T
cDNA c.713G>A
Protein p.C238Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113.3 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276695.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407267.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_000546 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407269.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276761.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276695.3 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126118.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276695 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276696 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276696.3 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407271.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276761.3 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276761 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407265.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276760 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126113 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407263.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126118.2 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276760.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276696.1 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126114 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126112 chr17:g.7674250C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001276760.3 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001126118 chr17:g.7673790C>T c.713G>A p.C238Y RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7674250C>T c.713G>A p.C238Y 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