rs387906914

This is a variant in the IL36RN gene that changes a leucine to an proline.

ClinVar annotation

Pathogenic☆☆☆
3 submitters5 publications

Acrodermatitis continua suppurativa of Hallopeau (PSORS14); Generalized pustular psoriasis

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About IL36RN

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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