rs5743673

This variant is located in the IL18BP gene.

ClinVar annotation

Benign★★★
3 submitters2 publications

not provided; Clear cell carcinoma of kidney; Hepatocellular carcinoma; Lung cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Acute myeloid leukemia; Malignant tumor of esophagus; Cervical cancer; Sarcoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma

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About IL18BP

The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohn's disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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