CARD11
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | CARD11 |
| GeneCards | CARD11 |
| Diseases | CARD11 |
| wikipedia | CARD11 |
| CARD11 | |
| gopubmed | CARD11 |
| EVS | CARD11 |
| HEFalMp | CARD11 |
| MyGene2 | CARD11 |
| 23andMe | CARD11 |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1064795307 | 0 | 2,913,383 | |
| rs199692405 | 4.9 | 2,947,624 | |
| rs387907351 | 0 | 2,944,495 | |
| rs387907352 | 0 | 2,944,529 | |
| rs397514686 | 0 | 2,915,243 | |
| rs571517554 | 0 | 2,944,528 | |
| rs794729673 | 0 | 2,947,649 |
The CARD11 gene, located on chromosome 7, encodes caspase recruitment domain family member 11, a scaffolding protein involved in lymphocyte receptor signaling.
Several dominantly inherited mutations in the CARD11 gene have been reported to cause severe eczema.10.1038/ng.3898 These mutations include:
- 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
