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Gene | PTEN |
Variant | R14fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN R14fs results in a change in the amino acid sequence of the Pten protein beginning at aa 14 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R14fs has not been characterized, however, due to the effects of other truncation mutations downstream of R14 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R14fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87864508_87864509) |
cDNA | c.(40_39) |
Protein | p.R14fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87864509delA | c.40delA | p.R14fs*10 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87864508_87864509) | c.(40_39) | p.R14fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87864508_87864509) | c.(40_39) | p.R14fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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