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SRSF6

Synonyms
B52, HEL-S-91, SFRS6, SRP55
External resources
Summary
The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, 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
3,187
Likely benign
373
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SRSF6 gene.

Phenotype class
Patients in 3billion (%)

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