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Gene | STK11 |
Variant | H202R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 H202R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H202R demonstrates autophosphorylation similar to wild-type Stk11 in an in vitro assay, but results in decreased Stk11-dependent Tp53-mediated transcriptional activation in a reporter assay (PMID: 34849607), and therefore, is predicted to lead to a loss of Stk11 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 inact mut STK11 H202R |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220588A>G |
cDNA | c.605A>G |
Protein | p.H202R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000455.4 | chr19:g.1220588A>G | c.605A>G | p.H202R | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220588A>G | c.605A>G | p.H202R | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220588A>G | c.605A>G | p.H202R | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220588A>G | c.605A>G | p.H202R | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220588A>G | c.605A>G | p.H202R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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