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Gene | ALK |
Variant | V1180L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK V1180L lies within the protein kinase domain of the Alk protein (UniProt.org). V1180L has been demonstrated to occur as a secondary resistance mutation in the context of EML4-ALK (PMID: 25228534, PMID: 27432227, PMID: 35324529), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK V1180X ALK V1180L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220813C>G |
cDNA | c.3538G>C |
Protein | p.V1180L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |