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 H123Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN H123Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). The functional effect of H123Y is conflicting as it results in increased Akt activation and cell survival in culture in one study (PMID: 11448956), but suppresses Akt signaling similar to wild-type Pten in another study (PMID: 32704382), and demonstrates Pten protein stability similar to wild-type protein, however, fails to rescue spheroid formation (PMID: 32366478), and results in a loss of phosphatase activity (PMID: 9256433, PMID: 11448956, PMID: 29706350), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN H123Y

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.87933126C>T
cDNA c.367C>T
Protein p.H123Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87933126C>T c.367C>T p.H123Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933126C>T c.367C>T p.H123Y RefSeq GRCh38/hg38
NM_000314 chr10:g.87933126C>T c.367C>T p.H123Y 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