RFXAP
Chr 13ARregulatory factor X associated protein
Also known as: MHC2D4
The encoded protein forms part of the RFX transcriptional complex that binds to X-box motifs in MHC class II gene promoters and activates their transcription. Mutations cause MHC class II deficiency (bare lymphocyte syndrome type II), a severe combined immunodeficiency presenting in early infancy with recurrent infections. This follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
200 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 | 14 | 0 | 20 | 0 | 34 |
Likely Pathogenic | 8 | 0 | 0 | 0 | 8 |
VUS | 3 | 82 | 18 | 1 | 104 |
Likely Benign | 0 | 1 | 13 | 38 | 52 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 25 | 83 | 52 | 39 | 199 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RFXAP · 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 →External Resources
Links to major genomics databases and tools