rs111521887

This is a intron variant variant in the TOLLIP gene.

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ClinVar annotation

Association
1 submitter

Chronic obstructive pulmonary disease; Combined pulmonary fibrosis-emphysema syndrome; Interstitial lung disease 2 (ILD2); Susceptibility to severe coronavirus disease (COVID-19)

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About TOLLIP

This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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