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@jax.org
Gene | PTEN |
Variant | K237fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K237fs results in a change in the amino acid sequence of the Pten protein beginning at 237 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K237fs has not been characterized, however, due to the effects of other truncation mutations downstream of K237 (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 K237fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87957926_87957927) |
cDNA | c.(709_708) |
Protein | p.K237fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957929delG | c.711delG | p.K237fs*19 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87957926_87957927) | c.(709_708) | p.K237fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87957926_87957927) | c.(709_708) | p.K237fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K237fs | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |