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| Gene | ALK |
| Variant | R395H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ALK R395H lies within MAM domain 1 of the Alk protein (UniProt.org). R395H has been identified in sequencing studies (PMID: 22877736), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ALK mutant ALK R395H |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29383830C>T |
| cDNA | c.1184G>A |
| Protein | p.R395H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |