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Gene | ALK |
Variant | L1198R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1198R lies within the protein kinase domain of the Alk protein (UniProt.org). L1198R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 38448512), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1198X ALK L1198R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220758A>C |
cDNA | c.3593T>G |
Protein | p.L1198R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220758A>C | c.3593T>G | p.L1198R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK L1198R | unknown | |
EML4 - ALK ALK L1198R |