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Gene | PTEN |
Variant | C124W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN C124W lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124W has been identified in the scientific literature (PMID: 29706350), 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 C124W |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933131T>G |
cDNA | c.372T>G |
Protein | p.C124W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933131T>G | c.372T>G | p.C124W | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933131T>G | c.372T>G | p.C124W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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