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NKRF

Synonyms
ITBA4, NRF
External resources
Summary
This gene encodes a transcriptional repressor that interacts with specific negative regulatory elements to mediate transcriptional repression of certain nuclear factor kappa B responsive genes. The protein localizes predominantly to the nucleolus with a small fraction found in the nucleoplasm and cytoplasm. Alternate splicing results in multiple transcript variants.

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
625
Likely benign
139
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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