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 C275Wfs*70
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TP53 C275Wfs*70 indicates a shift in the reading frame starting at amino acid 275 and terminating 70 residues downstream causing a premature truncation of the 393 amino acid Tp53 protein (UniProt.org). C275Wfs*70 has not been biochemically characterized, but can be predicted to lead to a loss of Tp53 protein function due to the effects of C275* (PMID: 25584008).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon8 TP53 C275Wfs*70

TP53 mutant TP53 inact mut TP53 C275Wfs*70

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.7673795delA
cDNA c.825delT
Protein p.C275Wfs*70
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407266.1 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7673795_7673796insGGGTTC c.824_825insGAACCC p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7673795_7673796insTTTTC c.824_825insGAAAA p.C275Wfs*70 RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7673795_7673796insGGGTTC c.824_825insGAACCC p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126114 chr17:g.7673795_7673796insGGGCTC c.824_825insGAGCCC p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7673795_7673796insGGGTTC c.824_825insGAACCC p.C275Wfs*70 RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_000546 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001407262.1 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7673795_7673796insTTTTC c.824_825insGAAAA p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126112 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126113 chr17:g.7673796_7673797insCGGCC c.824_825insGCCGG p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7673795delA c.825delT p.C275Wfs*70 RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7673795_7673796insGGGTTC c.824_825insGAACCC p.C275Wfs*70 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