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Gene | ALK |
Variant | G1123D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1123D lies within the protein kinase domain of the Alk protein (UniProt.org). G1123D has been demonstrated to confer drug resistance in cell culture (PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK G1123D |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222599C>T |
cDNA | c.3368G>A |
Protein | p.G1123D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222599C>T | c.3368G>A | p.G1123D | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222599C>T | c.3368G>A | p.G1123D | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222599C>T | c.3368G>A | p.G1123D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK G1123D ALK F1174L | neuroblastoma | resistant | TAE684 | Preclinical - Cell culture | Actionable | In a preclinical study, expression of ALK G1123D in neuroblastoma cells harboring an ALK F1174L mutation resulted in resistance to TAE684 in culture (PMID: 21948233). | 21948233 |