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SF3B6

Synonyms
CGI-110, HSPC175, Ht006, P14, SAP14, SAP14a, SF3B14, SF3B14a
External resources
Summary
This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
284
Likely benign
15
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on SF3B6 gene.

Phenotype class
Patients in 3billion (%)

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