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Gene | ALK |
Variant | N1178H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK N1178H lies within the protein kinase domain of the Alk protein (UniProt.org). N1178H has been demonstrated to occur as a secondary drug resistance mutation in the context of NPM1-ALK (PMID: 25749034), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK N1178H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220819T>G |
cDNA | c.3532A>C |
Protein | p.N1178H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220819T>G | c.3532A>C | p.N1178H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220819T>G | c.3532A>C | p.N1178H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220819T>G | c.3532A>C | p.N1178H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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