Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | L182fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L182fs results in a change in the amino acid sequence of the Pten protein beginning at aa 182 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L182fs has not been characterized, however, due to the effects of other truncation mutations downstream of L182 (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 L182fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87952168_87952169) |
cDNA | c.(544_543) |
Protein | p.L182fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.(87952168_87952169) | c.(544_543) | p.L182fs | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87952168_87952169) | c.(544_543) | p.L182fs | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.(87952168_87952169) | c.(544_543) | p.L182fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|