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Gene | PTEN |
Variant | T321fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however, due to the effects of other truncation mutations downstream of T321 (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 T321fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961052_87961053) |
cDNA | c.(961_960) |
Protein | p.T321fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87961052_87961053) | c.(961_960) | p.T321fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN T321fs | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs | ||
KIT Y570_L576del KIT D816E PTEN T321fs |