RFLNB
Chr 17refilin B
Also known as: CFM1, FAM101B
The RFLNB protein regulates the perinuclear actin network and nuclear shape through filamin binding and plays an essential role in cartilaginous skeletal element formation. Mutations cause autosomal recessive spondylocarpotarsal synostosis syndrome, characterized by vertebral fusions and joint abnormalities affecting the skeletal system. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
110 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 53 |
Likely Pathogenic | — | — | — | — | 5 |
VUS | — | — | — | — | 44 |
Likely Benign | — | — | — | — | 7 |
Benign | — | — | — | — | 0 |
Conflicting | — | 1 | |||
| Total | — | 110 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RFLNB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools