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SRSF8

Synonyms
DSM-1, SFRS2B, SRP46
External resources
Summary
This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative 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
1,001
Likely benign
0
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SRSF8 gene.

Phenotype class
Patients in 3billion (%)

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