rs768150388

This variant is located in the SRPK1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SRPK1

This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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