Gene
SMAD3
SMAD family member 3
Explore in graph →CI-GENE-00031378HGNC:6769 ENSG00000166949 NCBI 4088 CIViC Cancer geneApproved
Curated evidence
Clinical evidence (1)
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
- 16828225
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SMAD3 R373H1 | ||||||||
| (functional) | —UNRESOLVED | Functional | D | Supports Loss Of Function | 3 | submitted | EID10211In a screen for TGF-beta signaling pathway alterations in colorectal cancer cell lines, the SMAD3 missense mutation R373H was discovered in SNU-769A cells. SMAD3 R373H was expressed in Mv1Lu cells to … (full text at CIViC) PMID 16828225 · Ku et al., 2007 · Open in CIViC | civic |
Cohorts
Alteration frequency by cohort (48)
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
- 32332851
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Upper Tract Urothelial Carcinoma PDX (MSK, Nat Commun 2020) utuc_pdx_msk_2019 | Renal Pelvis and Ureter Urothelial Carcinoma | Ssm |
Literature
Linked publications (0)
Data not yet available