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Gene | PTEN |
Variant | K128N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN K128N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K128N demonstrates intermediate phosphatase activity against Pip3 in a yeast assay (PMID: 21828076), but has not been fully biochemically characterized and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN K128N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933143G>C |
cDNA | c.384G>C |
Protein | p.K128N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933143G>C | c.384G>C | p.K128N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933143G>C | c.384G>C | p.K128N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933143G>C | c.384G>C | p.K128N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN K128N | unknown |