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| Gene | ALK |
| Variant | R1212H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK R1212H lies within the protein kinase domain of the Alk protein (UniProt.org). R1212H has been identified in sequencing studies (PMID: 21499247, PMID: 28912153, PMID: 28581676), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK R1212H |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29220716C>T |
| cDNA | c.3635G>A |
| Protein | p.R1212H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304.5 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
| NM_004304 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29220716C>T | c.3635G>A | p.R1212H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|