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 | S10I |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN S10I lies within the lipid binding domain of the Pten protein (PMID: 25263454). S10I 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 S10I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864498G>T |
cDNA | c.29G>T |
Protein | p.S10I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864498G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864498G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87952245G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87952245G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87952245G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864498G>T | c.29G>T | p.S10I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|