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Gene | ALK |
Variant | I1171S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK I1171S lies within the protein kinase domain of the Alk protein (UniProt.org). I1171S has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859, PMID: 25393796, PMID: 26464158), 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 I1171X ALK I1171S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222347A>C |
cDNA | c.3512T>G |
Protein | p.I1171S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222347A>C | c.3512T>G | p.I1171S | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222347A>C | c.3512T>G | p.I1171S | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222347A>C | c.3512T>G | p.I1171S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK I1171S | unknown | |
EML4 - ALK ALK I1171S | Lorlatinib | |
EML4 - ALK ALK I1171S ALK F1174V | ||
EML4 - ALK ALK I1171S ALK L1196M | ||
ALK I1171S ALK pos | ||
EML4 - ALK ALK I1171S ALK G1269A | ||
ALK rearrange ALK I1171S |