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| Gene | ALK |
| Variant | I1171T |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ALK I1171T lies within the protein kinase domain of the Alk protein (UniProt.org). I1171T confers a gain of function on the Alk protein as indicated by ligand-independent autophosphorylation, activation of Erk1/2, and cell transformation (PMID: 29907598), and has been demonstrated to confer drug resistance in the context of ALK fusions in culture (PMID: 27009859). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ALK mutant ALK act mut ALK I1171T ALK mutant ALK I1171X ALK I1171T |
| Transcript | NM_004304.5 |
| gDNA | chr2:g.29222347A>G |
| cDNA | c.3512T>C |
| Protein | p.I1171T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004304 | chr2:g.29222347A>G | c.3512T>C | p.I1171T | RefSeq | GRCh38/hg38 |
| NM_004304.4 | chr2:g.29222347A>G | c.3512T>C | p.I1171T | RefSeq | GRCh38/hg38 |
| NM_004304.5 | chr2:g.29222347A>G | c.3512T>C | p.I1171T | RefSeq | GRCh38/hg38 |