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SRSF1

Synonyms
ASF, SF2, SF2p33, SFRS1, SRp30a
External resources
Summary
This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13.

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
1,795
Likely benign
172
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SRSF1 gene.

Phenotype class
Patients in 3billion (%)

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