Gene Variant Detail

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Gene STK11
Variant E57Sfs*107
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions STK11 E57Sfs*107 indicates a shift in the reading frame starting at amino acid 57 and terminating 107 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). E57Sfs*107 has not been characterized however, due to the effects of other truncation mutations downstream of E57 (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 E57fs STK11 E57Sfs*107

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Transcript NM_000455.5
gDNA chr19:g.1207081_1207082insAGCA
cDNA c.168_169insAGCA
Protein p.E57Sfs*107
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000455.5 chr19:g.1207081_1207082insAGCA c.168_169insAGCA p.E57Sfs*107 RefSeq GRCh38/hg38
XM_005259617.3 chr19:g.1207081_1207082insAGCA c.168_169insAGCA p.E57Sfs*107 RefSeq GRCh38/hg38
NM_000455.4 chr19:g.1207081_1207082insAGCA c.168_169insAGCA p.E57Sfs*107 RefSeq GRCh38/hg38
XM_005259617 chr19:g.1207081_1207082insAGCG c.168_169insAGCG p.E57Sfs*107 RefSeq GRCh38/hg38
XM_005259618.3 chr19:g.1207081_1207082insAGCA c.168_169insAGCA p.E57Sfs*107 RefSeq GRCh38/hg38
NM_001407255.1 chr19:g.1207081_1207082insAGCA c.168_169insAGCA p.E57Sfs*107 RefSeq GRCh38/hg38
XM_005259618 chr19:g.1207081_1207082insAGCG c.168_169insAGCG p.E57Sfs*107 RefSeq GRCh38/hg38
NM_000455 chr19:g.1207081_1207082insAGCG c.168_169insAGCG p.E57Sfs*107 RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References