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Gene | STK11 |
Variant | L45fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 L45fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 45 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). L45fs has not been characterized however, due to the effects of other truncation mutations downstream of L45 (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 L45fs |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1207045_1207046) |
cDNA | c.(133_132) |
Protein | p.L45fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.(1207045_1207046) | c.(133_132) | p.L45fs | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1207045_1207046) | c.(133_132) | p.L45fs | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1207045_1207046) | c.(133_132) | p.L45fs | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1207045_1207046) | c.(133_132) | p.L45fs | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1207045_1207046) | c.(133_132) | p.L45fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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