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Gene | PTEN |
Variant | K6fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K6fs results in a change in the amino acid sequence of the Pten protein beginning at aa 6 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K6fs has not been characterized, however, due to the effects of other truncation mutations downstream of K6 (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 K6fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87864484_87864485) |
cDNA | c.(16_15) |
Protein | p.K6fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87864484_87864485delCA | c.15_16delCA | p.K6fs*4 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87864484_87864485) | c.(16_15) | p.K6fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87864484_87864485) | c.(16_15) | p.K6fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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