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QKI

Synonyms
Hqk, QK, QK1, QK3, hqkI
External resources
Summary
The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms 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
5,576
Likely benign
2,003
Benign
0

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)

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