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 G251del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions PTEN G251del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 251 (UniProt.org). G251del has been identified in the scientific literature (PMID: 35171658), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN G251del

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.87957970_87957972delGTG
cDNA c.752_754delGTG
Protein p.G251delG
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87931068_87931070delACC c.751_753delACC p.T251delT RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957970_87957972delGTG c.752_754delGTG p.G251del RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957970_87957972delGTG c.752_754delGTG p.G251delG 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