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 F134L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TP53 F134L lies within the DNA binding region of the Tp53 protein (UniProt.org). F134L results in a loss of Tp53-dependent DNA damage response (PMID: 14587098), altered subcellular localization, failure to induce apoptosis in culture, decreased expression of downstream Tp53-targets, and decreased transactivation activity in a reporter assay (PMID: 31081129).
Associated Drug Resistance
Category Variants Paths

TP53 mutant TP53 exon5 TP53 F134L

TP53 mutant TP53 inact mut TP53 F134L

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.7675212A>G
cDNA c.400T>C
Protein p.F134L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407262.1 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126113 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_000546.6 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126114.2 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126112 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126113.2 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126112.2 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_000546 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126112.3 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126114 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001407268.1 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_000546.5 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001407270.1 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126114.3 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001407266.1 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001407264.1 chr17:g.7675212A>G c.400T>C p.F134L RefSeq GRCh38/hg38
NM_001126113.3 chr17:g.7675212A>G c.400T>C p.F134L 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