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PTEN V54del - Gene Variant Detail

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Gene PTEN
Variant V54del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V54del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 54 (UniProt.org). V54del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN V54del

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Transcript NM_000314.8
gDNA chr10:g.87894105_87894107delGTA
cDNA c.160_162delGTA
Protein p.V54delV
Source Database RefSeq
Genome Build 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.