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Gene | ALK |
Variant | G1123S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1123S lies within the protein kinase domain of the Alk protein (UniProt.org). G1123S has been demonstrated to confer drug resistance in culture (PMID: 26134233, PMID: 21948233), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK G1123S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222600C>T |
cDNA | c.3367G>A |
Protein | p.G1123S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK G1123S | unknown | |
ALK rearrange ALK G1123S | ||
ALK G1123S ALK F1174L | ||
EML4 - ALK ALK G1123S |