FAM114A2
Chr 5family with sequence similarity 114 member A2
Also known as: 133K02, C5orf3
The protein is predicted to bind purine nucleotides, but no specific diseases have been definitively associated with FAM114A2 mutations in the provided data. The gene shows tolerance to loss-of-function variants based on constraint metrics, suggesting haploinsufficiency may not cause disease.
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM114A2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools