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Gene | PTEN |
Variant | Q214_F215del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Q214_F215del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 214 to 215 (UniProt.org). Q214_F215del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Q214_F215del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957858_87957863delCAGTTT |
cDNA | c.640_645delCAGTTT |
Protein | p.Q214_F215del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87957858_87957863delCAGTTT | c.640_645delCAGTTT | p.Q214_F215del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957858_87957863delCAGTTT | c.640_645delCAGTTT | p.Q214_F215del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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