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Gene | PTEN |
Variant | P248L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN P248L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P248L has been identified in the scientific literature (PMID: 25495427), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN P248L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957961C>T |
cDNA | c.743C>T |
Protein | p.P248L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957961C>T | c.743C>T | p.P248L | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957961C>T | c.743C>T | p.P248L | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957961C>T | c.743C>T | p.P248L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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