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Gene | ALK |
Variant | L1204F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1204F lies within the protein kinase domain of the Alk protein (UniProt.org). L1204F is not activating in an in vitro assay and is not transforming in culture (PMID: 33674381, PMID: 25517749), but has not been fully biochemically characterized and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK L1204F |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220741G>A |
cDNA | c.3610C>T |
Protein | p.L1204F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220741G>A | c.3610C>T | p.L1204F | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220741G>A | c.3610C>T | p.L1204F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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