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 PTEN
Variant S385A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN S385A does not lie within any known functional domains of the Pten protein (UniProt.org). The functional effect of S385A is conflicting as it demonstrates Pten protein stability, cell cycle arrest, and transcriptional activation of FKHR similar to wild-type Pten in culture (PMID: 10866658), however, demonstrates reduced phosphorylation and Pten protein stability (PMID: 11035045) and decreased ability to undergo phosphorylation by Ck2 in cell culture (PMID: 16107342), and demonstrates increased lipid phosphatase activity, but not enhanced catalytic activity via PIP2, and leads to increased nuclear and membrane localization in cell culture (PMID: 17565999, PMID: 16807353), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN S385A

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.87965413T>G
cDNA c.1153T>G
Protein p.S385A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965413T>G c.1153T>G p.S385A RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965413T>G c.1153T>G p.S385A 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries