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Gene | PTEN |
Variant | K254fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K254fs results in a change in the amino acid sequence of the Pten protein beginning at 254 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K254fs has not been characterized, however, due to the effects of other truncation mutations downstream of K254 (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 K254fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87957977_87957978) |
cDNA | c.(760_759) |
Protein | p.K254fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.(87957978_87960980) | c.(760_888) | p.K254fs*42 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87957977_87957978) | c.(760_759) | p.K254fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87957977_87957978) | c.(760_759) | p.K254fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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