Gene
SMARCA2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
Explore in graph →CI-GENE-00031393HGNC:11098 ENSG00000080503 NCBI 6595 CIViC Cancer geneApproved
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
- 31375262
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SMARCA2 K755R1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Neomorphic | 3 | accepted | EID11043SMARCA2 mutations K755R and R1159Q are seen in Nicolaides-Barraitser syndrome (NCBRS) (PMID: 22366787). To evaluate the effects of these mutations, CRISPR/Cas9 was used to introduce heterozygous K755R… (full text at CIViC) PMID 31375262 · Gao et al., 2019 · Open in CIViC | civic |
| SMARCA2 R1159Q1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Neomorphic | 3 | accepted | EID11042SMARCA2 mutations K755R and R1159Q are seen in Nicolaides-Barraitser syndrome (NCBRS) (PMID: 22366787). To evaluate the effects of these mutations, CRISPR/Cas9 was used to introduce heterozygous K755R… | |
Cohorts
Alteration frequency by cohort (23)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- NCI Genomic Data Commons (open aggregated data)
- Dataset
- GDC top mutated genes by project
- Version
- Data Release 46.0
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- Open-access GDC data (NCI); citation of GDC and originating program requested
- Run
- ING-GDC-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Skin Cutaneous Melanoma TCGA-SKCM | Cutaneous Melanoma | Ssm |
Literature
Linked publications (1)
25 per page, newest first.
- Source
- PubMed (NLM)
- Dataset
- PubMed E-utilities
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4.
· Mol Cell · 2019 · PMID 31375262 · validated civic_curation pubmed