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| Gene | ALK |
| Variant | G1202R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R confers a gain of function to the Alk protein as indicated by increased colony formation, decreased Cdh1 expression, increased migration and invasion, and increased expression of metastatic factors Cdh2, Vim, Mmp2, Mmp9, and Slug in the context of EML4-ALK compared to expression of EML4-ALK alone in cell culture (PMID: 35085771), and has been demonstrated to confer resistance to Alk inhibitors in the context of ALK fusions (PMID: 22277784, PMID: 24736079, PMID: 35085771). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ALK mutant ALK act mut ALK G1202R ALK mutant ALK G1202X ALK G1202R |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220747C>T |
| cDNA | c.3604G>A |
| Protein | p.G1202R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.4 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |