rs1481926276

This variant is located in the CLEC6A gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CLEC6A

The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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