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@genomenon.com

Gene TP53
Variant C242fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C242fs results in a change in the amino acid sequence of the Tp53 protein beginning at aa 242 of 393, likely resulting in premature truncation of the functional protein (UniProt.org). C242fs has not been biochemically characterized however, due to the effects of truncation mutations downstream of C242 (PMID: 31081129, PMID: 34045312), is predicted to lead to a loss of Tp53 protein function.
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon7 TP53 C242fs

TP53 mutant TP53 inact mut TP53 C242fs

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.(7674239_7674240)
cDNA c.(724_723)
Protein p.C242fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001126113 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126114 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_000546 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_000546.5 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_000546.6 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.(7674239_7674240) c.(724_723) p.C242fs RefSeq GRCh38/hg38
NM_001126112 chr17:g.(7674239_7674240) c.(724_723) p.C242fs 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
TP53 C242fs acute myeloid leukemia predicted - sensitive thioureidobutyronitrile Preclinical - Cell culture Actionable In a preclinical study, Kevetrin (thioureidobutyronitrile) treatment resulted in apoptosis, decreased cell viability, altered cell cycle progression, elevated expression of Tp53 target genes, and increased Tp53 nuclear localization in an acute myeloid leukemia cell line harboring TP53 C242fs in culture (PMID: 32945487). 32945487