CANVAS

Chr 4

replication factor C subunit 1

Also known as: A1, CANVAS, MHCBFB, PO-GA, RECC1, RFC, RFC140

NCBI Gene: 5981

This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

0
ClinVar variants
0
Pathogenic / LP
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pLI score
2
Active trials
Clinical Summary— CANVAS
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CANVAS?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CANVAS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — CANVAS
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Estimated Lifetime Cardiovascular, Kidney, and Mortality Benefits of Combination Treatment With SGLT2 Inhibitors, GLP-1 Receptor Agonists, and Nonsteroidal MRA Compared With Conventional Care in Patients With Type 2 Diabetes and Albuminuria.
Neuen BL et al.·Circulation
2024Case report
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Cortese A et al.·Pract Neurol
2022Review
The inherited cerebellar ataxias: an update.
Coarelli G et al.·J Neurol
2023Review
Renoprotective effects of sodium-glucose cotransporter-2 inhibitors.
Heerspink HJL et al.·Kidney Int
2018Review
Repeat expansion disorders.
Chen Z et al.·Pract Neurol
2025Review
Ataxia.
Zesiewicz TA·Continuum (Minneap Minn)
2025Review
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N et al.·Brain
2023
Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS).
Dupré M et al.·Cerebellum
2021Review
Canagliflozin and Heart Failure in Type 2 Diabetes Mellitus: Results From the CANVAS Program.
Rådholm K et al.·Circulation
2018
Hereditary Neuropathies.
Hayes LH et al.·Continuum (Minneap Minn)
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Vestibular assessment in definite cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS): A case of siblings study.
Matsuda K et al.·Auris Nasus Larynx
2026
Real-world effectiveness of rituximab or intravenous cyclophosphamide versus non-use in patients with severe microscopic polyangiitis and granulomatosis with polyangiitis: a retrospective cohort study of J-CANVAS.
Omura S et al.·Mod Rheumatol
2026Cohort
Effectiveness and safety of rituximab for remission maintenance therapy in microscopic polyangiitis and granulomatosis with polyangiitis in Japan: A retrospective multicenter cohort study (J-CANVAS).
Takeuchi M et al.·Mod Rheumatol
2026Cohort
Health is not a clean canvas.
Oben AI.·Arts Health
2026
Trust Analysis Canvas for Teaching in the Field of Digital Public Health and Medicine: Tutorial.
Zavattaro F et al.·JMIR Med Educ
2026🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Bilateral Vestibular HypofunctionBilateral Vestibular DeficiencyBilateral Vestibulopathy

Long Term Outcomes After Vestibular Implantation

RECRUITING
NCT06500975Phase NAJohns Hopkins UniversityStarted 2024-12-01
Labyrinth Devices MVI™ Multichannel Vestibular Implant System
CANVAS Syndrome

Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS

RECRUITING
NCT07156214Phase NACatholic University of the Sacred HeartStarted 2024-10-14
Assessment of markers of oxidative stress in peripheral blood samples

External Resources

Links to major genomics databases and tools