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CARD11

From SNPedia
is agene
is mentioned by
ClinVarCARD11
GeneCardsCARD11
DiseasesCARD11
wikipediaCARD11
googleCARD11
gopubmedCARD11
EVSCARD11
HEFalMpCARD11
MyGene2CARD11
23andMeCARD11
# SNPs7
 Max MagnitudeChromosome positionSummary
rs10647953072,913,383
rs1996924054.92,947,624
rs38790735102,944,495
rs38790735202,944,529
rs39751468602,915,243
rs57151755402,944,528
rs79472967302,947,649

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