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Gene | PTEN |
Variant | Y379* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y379* results in a premature truncation of the Pten protein at amino acid 379 of 403 (UniProt.org). Y379* results in decreased Pten protein expression in cultured cells (PMID: 10468583), but has not been fully biochemically characterized and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y379* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965397T>A |
cDNA | c.1137T>A |
Protein | p.Y379* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87965397T>A | c.1137T>A | p.Y379* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965397T>A | c.1137T>A | p.Y379* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965397T>A | c.1137T>A | p.Y379* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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