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Gene | PTEN |
Variant | S59L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN S59L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S59L has been identified in sequencing studies (PMID: 19962665), 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 S59L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925524C>T |
cDNA | c.176C>T |
Protein | p.S59L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87925524C>T | c.176C>T | p.S59L | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87925524C>T | c.176C>T | p.S59L | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87925524C>T | c.176C>T | p.S59L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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