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NFIL3

Synonyms
E4BP4, IL3BP1, NF-IL3A, NFIL3A
External resources
Summary
The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
300
Likely benign
527
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on NFIL3 gene.

Phenotype class
Patients in 3billion (%)

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