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KLRB1

Synonyms
CD161, CLEC5B, NKR, NKR-P1, NKR-P1A, NKRP1A, hNKR-P1A
External resources
Summary
Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
596
Likely benign
1,092
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KLRB1 gene.

Phenotype class
Patients in 3billion (%)

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