Gene
ATXN1L
ataxin 1 like
Explore in graph →CI-GENE-00021463HGNC:33279 ENSG00000224470 NCBI 342371 CIViC Approved
Curated evidence
Clinical evidence (2)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 28178529
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ATXN1L Loss2 | ||||||||
| Dabrafenib + VemurafenibSubstitutes | Melanoma | Predictive | B | Supports Resistance | 3 | submitted | EID5124ATXN1L expression was analyzed in 30 BRAF V600-mutant untreated melanoma metastes. 21 of these patients were subsequently treated with dabrafenib or vemurafenib, and 9 of these patients were treated w… (full text at CIViC) PMID 28178529 · Wang et al., 2017 · Open in CIViC | civic |
| Trametinib | Malignant Pancreatic Neoplasm | Predictive | D | Supports Resistance | 3 | submitted | EID5123ATXN1L loss reduced sensitivity to trametinib in KRAS G12V pancreatic cancer cells (PATU8902, PATU8988T). PMID 28178529 · Wang et al., 2017 · Open in CIViC | civic |
Cohorts
Alteration frequency by cohort (1)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- PMID
- 22722829
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Medulloblastoma (PCGP, Nature 2012) mbl_pcgp | Medulloblastoma | Ssm | 1 | 37 | 2.7% |
Literature
Linked publications (0)
Data not yet available