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Gene | PTEN |
Variant | T319fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T319fs results in a change in the amino acid sequence of the Pten protein beginning at aa 319 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T319fs has not been characterized, however, due to the effects of other truncation mutations downstream of T319 (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 T319fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961046_87961047) |
cDNA | c.(955_954) |
Protein | p.T319fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.(87961046_87961047) | c.(955_954) | p.T319fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961046_87961047insTA | c.954_955insTA | p.T319fs*1 | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961046_87961047) | c.(955_954) | p.T319fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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