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Gene | STK11 |
Variant | Q214* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | STK11 Q214* results in a premature truncation of the Stk11 protein at amino acid 214 of 433 (UniProt.org). Q214* has not been characterized however, due to the effects of other truncation mutations downstream of Q214 (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 Q214* |
Transcript | NM_000455.5 |
gDNA | chr19:g.1220623C>T |
cDNA | c.640C>T |
Protein | p.Q214* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259618.3 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
XM_005259618 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_000455 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
XM_005259617 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_001407255.1 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_000455.4 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
XM_005259617.3 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_000455.5 | chr19:g.1220623C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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