rs3744061

This is a regulatory region variant variant in the SRSF2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

eye measurement

Sim X et al. “Genetic loci for retinal arteriolar microcirculation.” Plos One 8(6):e65804 (2013)
Allele G
OR 0.86
p 2.0e-10
N 18,722
Large GWAS
European

About SRSF2

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]

View all SRSF2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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