The CARD11 gene, located on chromosome 7, encodes caspase recruitment domain family member 11, a scaffolding protein involved in lymphocyte receptor signaling.
- rs199692405, but note it is T>A or T>G rather than the T>C listed in dbSNP; p.Glu57Asp (E57D)
- c.581T>C, p.Leu194Pro (L194P); no SNP rs-ID in dbSNP
- c.2923C>G, p.Arg975Trp (R975W); no SNP rs-ID in dbSNP
- a 14-aa insertion (p.Met183_Lys196; referred to as dup183_196); no SNP rs-ID in dbSNP