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Gene | ALK |
Variant | L1152P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1152P lies within the protein kinase domain of the Alk protein (UniProt.org). L1152P has been demonstrated to confer drug resistance in the context of ALK rearrangement in culture (PMID: 24675041), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1152P |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222404A>G |
cDNA | c.3455T>C |
Protein | p.L1152P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK L1152P | unknown | |
EML4 - ALK ALK L1152P | Brigatinib |