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Gene | PTEN |
Variant | K144* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K144* results in a premature truncation of the Pten protein at amino acid 144 of 403 (UniProt.org). K144* has not been characterized, however, due to the effects of other truncation mutations downstream of K144 (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 K144* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933189A>T |
cDNA | c.430A>T |
Protein | p.K144* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933189A>T | c.430A>T | p.K144* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933189A>T | c.430A>T | p.K144* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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