rs1481060391

This variant is located in the FUS gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Tremor, hereditary essential, 4;Amyotrophic lateral sclerosis type 6

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About FUS

This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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