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Gene | STK11 |
Variant | A218Sfs*42 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 A218Sfs*42 indicates a shift in the reading frame starting at amino acid 218 and terminating 42 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). A218Sfs*42 has not been characterized however, due to the effects of other truncation mutations downstream of A218 (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 A218Sfs*42 |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1220635_1221258) |
cDNA | c.(652_780) |
Protein | p.A218Sfs*42 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259617.3 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.(1220635_1221258) | c.(652_780) | p.A218Sfs*42 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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