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 | K13Q |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K13Q lies within the lipid binding domain of the Pten protein (PMID: 25263454). K13Q results in loss of phosphatase activity in cultured cells (PMID: 16088943), 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 K13Q |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864506A>C |
cDNA | c.37A>C |
Protein | p.K13Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864506A>C | c.37A>C | p.K13Q | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864506A>C | c.37A>C | p.K13Q | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864506A>C | c.37A>C | p.K13Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|