SVIL Chromosome 10

Supervillin
8 variants 8 Health Risk

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What This Gene Does
This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"Gelsolin/villins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10p11.23
Ensembl
ENSG00000197321
Associated Conditions (3)
SVIL-related disorder
Abnormal brain morphology
Myofibrillar myopathy 10
Key Variants
All Variants (8)
RSID Category Clinical Significance Conditions
RS143178190 Health Risk Conflicting classifications of pathogenicity
RS61737058 Health Risk Conflicting classifications of pathogenicity SVIL-related disorder, SVIL-related disorder
RS779200901 Health Risk Conflicting classifications of pathogenicity
RS2491788605 Health Risk Likely pathogenic
RS369519072 Health Risk Likely pathogenic
RS767673427 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS1948690345 Health Risk Pathogenic Myofibrillar myopathy 10, Myofibrillar myopathy 10
RS753121062 Health Risk Pathogenic Myofibrillar myopathy 10, Myofibrillar myopathy 10
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