rs1391833893

This variant is located in the NLRP12 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

Familial cold autoinflammatory syndrome 2

About NLRP12

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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