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Gene | STK11 |
Variant | G163D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 G163D lies within the protein kinase domain of the Stk11 protein (UniProt.org). G163D results in failure to activate the downstream kinase Ampk (PMID: 19892943) and failure to suppress cell growth in culture (PMID: 10430928). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 G163D |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220396G>A |
cDNA | c.488G>A |
Protein | p.G163D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259617 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220396G>A | c.488G>A | p.G163D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
STK11 G163D | loss of function | mTOR Inhibitor mTORC1 Inhibitor |