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Gene | STK11 |
Variant | D176N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | STK11 D176N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176N results in failure to recruit Smarca2 (Brm) to DNA double strand breaks in cell culture (PMID: 23584481) and results in loss of kinase activity in an vitro assay (PMID: 9837816). |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 D176N |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220434G>A |
cDNA | c.526G>A |
Protein | p.D176N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259617.3 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220434G>A | c.526G>A | p.D176N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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