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 | E314V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN E314V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E314V has been identified in the scientific literature (PMID: 29785012, PMID: 29706350), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN E314V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961033A>T |
cDNA | c.941A>T |
Protein | p.E314V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87961033A>T | c.941A>T | p.E314V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961033A>T | c.941A>T | p.E314V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|