rs2491366224
This variant is located in the NEBL gene.
▶ClinVar annotation
About NEBL
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
View all NEBL variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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