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Gene | STK11 |
Variant | P221R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 P221R lies within the protein kinase domain of the Stk11 protein (UniProt.org). P221R confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 P221R |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220645C>G |
cDNA | c.662C>G |
Protein | p.P221R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407255.1 | chr19:g.1220645C>G | c.662C>G | p.P221R | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220645C>G | c.662C>G | p.P221R | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220645C>G | c.662C>G | p.P221R | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220645C>G | c.662C>G | p.P221R | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220645C>G | c.662C>G | p.P221R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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