Publication
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Authors not recorded
Nat Genet2013PMID 23793026PMC4307600stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
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Linked entities
Linked entities (3)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 3
- cancerUveal Melanomacivic_curation1.00
- geneEIF1AXcivic_curation1.00
- variantEIF1AX MUTATIONcivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- 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
- 23793026
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| EIF1AX MUTATION1 | ||||||||
| (prognostic) | Uveal Melanoma | Prognostic | C | Supports Better Outcome | 4 | accepted | EID1712EIF1AX was identified as a uveal melanoma (UM) driver gene by whole-exome sequencing. Approximately 14%–20% of UM carry a mutation in EIF1AX, with most mutations found in exons 1 and 2. EIF1AX mutatio… (full text at CIViC) PMID 23793026 · Martin et al., 2013 · Open in CIViC | civic |