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Gene | STK11 |
Variant | Q37* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 Q37* results in a premature truncation of the Stk11 protein at amino acid 37 of 433 (UniProt.org). Q37* has not been characterized however, due to the effects of other truncation mutations downstream of Q37 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 Q37* |
Transcript | NM_000455.5 |
gDNA | chr19:g.1207022C>T |
cDNA | c.109C>T |
Protein | p.Q37* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259618 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1207022C>T | c.109C>T | p.Q37* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
STK11 Q37* | lung non-small cell carcinoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, non-small cell lung cancer cell lines harboring STK11 inactivating mutations, such as STK11 Q37*, demonstrated increased sensitivity to Mekinist (trametinib) in culture (PMID: 27821489). | 27821489 |