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Gene | STK11 |
Variant | P281fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 P281fs likely results in a premature truncation of the Stk11 protein at amino acid 281 of 433 (UniProt.org). STK11 P281fs has not been characterized however, due to the effects of other truncation mutations downstream of P281 (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 P281fs |
Transcript | NM_000455.5 |
gDNA | chr19:g.(1221318_1221319) |
cDNA | c.(841_840) |
Protein | p.P281fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.5 | chr19:g.(1221318_1221319) | c.(841_840) | p.P281fs | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.(1221318_1221319) | c.(841_840) | p.P281fs | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1221320delC | c.842delC | p.P281fs*6 | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.(1221318_1221319) | c.(841_840) | p.P281fs | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1221320delC | c.842delC | p.P281fs*6 | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1221320delC | c.842delC | p.P281fs*6 | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.(1221318_1221319) | c.(841_840) | p.P281fs | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.(1221318_1221319) | c.(841_840) | p.P281fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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