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 | Y178del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN Y178del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 178 (UniProt.org). Y178del 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 Y178del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952157_87952159delTAT |
cDNA | c.532_534delTAT |
Protein | p.Y178delY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87864483_87864485delTCA | c.533_535delTCA | p.I178delI | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952157_87952159delTAT | c.532_534delTAT | p.Y178delY | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952157_87952159delTAT | c.532_534delTAT | p.Y178del | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87965383_87965385delGAT | c.532_534delGAT | p.D178delD | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|