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 | L295V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN L295V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L295V demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, however, leads to impaired developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN L295V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960975C>G |
cDNA | c.883C>G |
Protein | p.L295V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|