TAFA1
Chr 3TAFA chemokine like family member 1
Also known as: FAM19A1, TAFA-1
This gene encodes a small secreted protein that functions as a brain-specific chemokine and serves as a ligand for CMKLR2, regulating neural stem cell proliferation and differentiation. Mutations in TAFA1 cause autosomal recessive developmental and epileptic encephalopathy characterized by severe intellectual disability, refractory seizures, and brain malformations. The pathogenic mechanism appears to involve loss of function of this secreted regulatory factor critical for normal brain development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
38 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 10 | 0 | 10 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 15 | 9 | 0 | 24 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 2 | |||
| Total | 0 | 15 | 20 | 0 | 37 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TAFA1 · 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