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Gene | STK11 |
Variant | L263fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 L263fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 263 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). L263fs confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 L263fs |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1221264_1221265) |
cDNA | c.(787_786) |
Protein | p.L263fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.(1221264_1221265) | c.(787_786) | p.L263fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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