Publication
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
Authors not recorded
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
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
- geneGNA11civic_curation1.00
- variantGNA11 Q209Lcivic_curation1.00
- variantGNA11 R183Ccivic_curation1.00
Curated evidence
Evidence citing this paper (2)
- 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
- 26778290
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| GNA11 Q209L1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | accepted | EID11150Western blots of transfected HEK293 cells showed that GNA11 Q209L had increased phosphorylation of the ERK, p38 MAPK, and JNK pathways, indicating activation (p<0.05). Zebrafish expressing Q209L showe… (full text at CIViC) PMID 26778290 · Thomas et al., 2016 · Open in CIViC | civic |
| GNA11 R183C1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Gain Of Function | 3 | accepted | EID1114911 patients with phakomatosis pigmentovascularis (PPV) and in some cases also dermal melanocytosis underwent germline sequencing of GNA11 and GNAQ, identifying mosaic mutations in affected skin. Weste… (full text at CIViC) PMID 26778290 · Thomas et al., 2016 · Open in CIViC | civic |