NFATC1
Chr 18nuclear factor of activated T cells 1
Also known as: NF-ATC, NF-ATc1.2, NFAT2, NFATc
NFATC1 encodes a transcription factor that regulates cytokine gene expression in T cells and controls gene expression in embryonic cardiac development, osteoclast differentiation, and lymphocyte function. Mutations cause congenital heart defects and immunodeficiency with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.447), indicating that such mutations are likely to be pathogenic.
Disputed — evidence questions this relationship
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
499 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 | 71 | 0 | 71 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 1 | 215 | 27 | 1 | 244 |
Likely Benign | 0 | 23 | 24 | 72 | 119 |
Benign | 1 | 7 | 4 | 26 | 38 |
Conflicting | — | 6 | |||
| Total | 2 | 245 | 132 | 99 | 484 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NFATC1 · 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
External Resources
Links to major genomics databases and tools