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Gene | STK11 |
Variant | E199K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | STK11 E199K lies within the protein kinase domain of the Stk11 protein (UniProt.org). E199K fails to activate the downstream kinase Ampk in cell culture (PMID: 19892943), but results in kinase activity comparable to wild-type Stk11 in an in vitro assay (PMID: 10676634), and therefore, its effect on Stk11 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
STK11 mutant STK11 E199K |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220503G>A |
cDNA | c.595G>A |
Protein | p.E199K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407255.1 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
XM_005259618.3 | chr19:g.1220503G>A | c.595G>A | p.E199K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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