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 | R233* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R233* results in a premature truncation of the Pten protein at amino acid 233 of 403 (UniProt.org). R233* confers a loss of function to the Pten protein, as indicated by failure to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454), and increased transformation of two different cell lines (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R233* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957915C>T |
cDNA | c.697C>T |
Protein | p.R233* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87957915C>T | c.697C>T | p.R233* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957915C>T | c.697C>T | p.R233* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957915C>T | c.697C>T | p.R233* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|