BOLA2B
Chr 16bolA family member 2B
This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
95 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 | — | — | — | — | 72 |
Likely Pathogenic | — | — | — | — | 17 |
VUS | — | — | — | — | 6 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 95 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BOLA2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools