Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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_004304.5 | chr2:g.29222347A>C | c.3512T>G | p.I1171S | RefSeq | GRCh38/hg38 |
NM_004304.4 | 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 | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|