Gene Variant Detail

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Gene STK11
Variant L282Afs*3
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 L282Afs*3 indicates a shift in the reading frame starting at amino acid 282 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L282Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of L282 (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 L282Afs*3

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Transcript NM_000455.5
gDNA chr19:g.1221321dupG
cDNA c.843dupG
Protein p.L282Afs*3
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000455 chr19:g.1221317_1221318insT c.839_840insT p.L282Afs*3 RefSeq GRCh38/hg38
XM_005259617 chr19:g.1221317_1221318insT c.839_840insT p.L282Afs*3 RefSeq GRCh38/hg38
XM_005259618.3 chr19:g.1221321dupG c.843dupG p.L282Afs*3 RefSeq GRCh38/hg38
NM_000455.5 chr19:g.1221321dupG c.843dupG p.L282Afs*3 RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1221321dupG c.843dupG p.L282Afs*3 RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1221321dupG c.843dupG p.L282Afs*3 RefSeq GRCh38/hg38
XM_005259618 chr19:g.1221317_1221318insT c.839_840insT p.L282Afs*3 RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1221321dupG c.843dupG p.L282Afs*3 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries