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Gene | STK11 |
Variant | S240* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 S240* results in a premature truncation of the Stk11 protein at amino acid 240 of 433 (UniProt.org). S240* has not been characterized however, due to the effects of other truncation mutations downstream of S240 (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 S240* |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220702C>A |
cDNA | c.719C>A |
Protein | p.S240* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407255.1 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220702C>A | c.719C>A | p.S240* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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