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 PTEN
Variant L23F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN L23F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L23F retains phosphatase activity, but results in nuclear accumulation of Pten and failure to inhibit Akt phosphorylation and cell proliferation in culture (PMID: 17213812) and therefore, confers a loss of function to the Pten protein.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN L23F

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_000314.8
gDNA chr10:g.87864538A>T
cDNA c.69A>T
Protein p.L23F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864538A>T c.69A>T p.L23F RefSeq GRCh38/hg38
NM_000314 chr10:g.87864538A>T c.69A>T p.L23F RefSeq GRCh38/hg38
NM_001304718.1 chr10:g.87957876_87957878delCTAinsTTT c.67_69delCTAinsTTT p.L23F RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87957876_87957878delCTAinsTTT c.67_69delCTAinsTTT p.L23F RefSeq GRCh38/hg38
NM_001304718 chr10:g.87957876_87957878delCTAinsTTT c.67_69delCTAinsTTT p.L23F RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864538A>T c.69A>T p.L23F 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 Protein Effect Treatment Approaches
PTEN L23F loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor