rs143810394

This variant is located in the CELF4 gene.

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ClinVar annotation

Benign

1 submitter

CELF4-related disorder

About CELF4

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all CELF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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