KLRC1
Chr 12killer cell lectin like receptor C1
Also known as: CD159A, NKG2, NKG2A
The KLRC1 protein functions as an immune inhibitory receptor that forms complexes with KLRD1 to recognize HLA-E molecules, enabling natural killer cells and T cells to distinguish self from non-self and prevent autoimmune responses. This gene is loss-of-function tolerant (pLI = 0.00004, LOEUF = 1.31), and mutations are not currently associated with established Mendelian disease phenotypes despite its role in immune regulation. The gene's tolerance to loss-of-function variants suggests that KLRC1 deficiency may not cause severe developmental or immunological disorders in humans.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KLRC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools