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Gene | PTEN |
Variant | N323T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN N323T lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N323T has been identified in sequencing studies (PMID: 33720082), 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 N323T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961060A>C |
cDNA | c.968A>C |
Protein | p.N323T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961060A>C | c.968A>C | p.N323T | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961060A>C | c.968A>C | p.N323T | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961060A>C | c.968A>C | p.N323T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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