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Gene | ALK |
Variant | F1245V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK F1245V lies within the protein kinase domain of the Alk protein (UniProt.org). F1245V confers a gain of function to the Alk protein, as it results in increased Alk kinase activity in vitro and leads to transformation activity in cell culture (PMID: 25517749, PMID: 33674381, PMID: 25517749). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK F1245V ALK mutant ALK F1245X ALK F1245V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213994A>C |
cDNA | c.3733T>G |
Protein | p.F1245V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213994A>C | c.3733T>G | p.F1245V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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