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Gene | ALK |
Variant | C1097A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ALK C1097A lies within the cytoplasmic domain of the Alk protein (UniProt.org). C1097A is not activating in an in vitro assay and is weakly transforming in culture in one study (PMID: 33674381) but in another study is not transforming in culture, does not lead to ligand-independent kinase activity, and retains functional kinase activity upon ligand binding in culture (PMID: 29084134), and therefore, is predicted to have no effect on Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK C1097A |
Transcript | NM_004304.5 |
gDNA | chr2:g.29223411_29223412delTGinsGC |
cDNA | c.3289_3290delTGinsGC |
Protein | p.C1097A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29223411_29223412delTGinsGC | c.3289_3290delTGinsGC | p.C1097A | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29223411_29223412delTGinsGC | c.3289_3290delTGinsGC | p.C1097A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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