CLEC1A

C-type lectin domain family 1 member A

Summary

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants22 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14458313612:10,223,237G/Aregulatory region variant—
rs77208139212:10,223,948A/G—likely benign
rs14788234812:10,224,014C/T—uncertain significance
rs249762145212:10,224,083G/A—likely benign
rs77849471012:10,226,005A/C—uncertain significance
rs14165067212:10,228,165A/T—uncertain significance
rs796061112:10,230,416G/Aintron variant—
rs77755487712:10,233,851A/G—uncertain significance
rs249764819112:10,233,959C/G—uncertain significance
rs37663471912:10,241,759C/T—uncertain significance
rs37635032012:10,241,766C/G—uncertain significance
rs75601048912:10,241,782A/G—uncertain significance
rs20099740312:10,241,813C/T—likely benign
rs57240053712:10,244,381T/C——
rs795620812:10,248,046A/Gintron variant—
rs75757292512:10,251,427T/C—likely benign
rs75356097912:10,251,431G/A—uncertain significance
rs230689412:10,251,445C/G—benign
rs36883213312:10,251,470T/C—uncertain significance
rs55342857212:10,251,473C/A—uncertain significance
rs75655344112:10,251,492G/C—uncertain significance
rs74657528212:10,251,506T/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.