CARD14 Chromosome 17

Caspase recruitment domain family member 14
78 variants 78 Health Risk

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What This Gene Does
This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Membrane associated guanylate kinases|Caspase recruitment domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141527
Associated Conditions (8)
Psoriasis 2
Pityriasis rubra pilaris
Autoinflammatory syndrome
Inborn genetic diseases
CARD14-related disorder
Papulosquamous eruptions
PSORIASIS 2
PUSTULAR
Key Variants
RS11653893
Benign; association
Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
Health Risk
RS34367357
Benign/Likely benign; association
Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
Health Risk
RS1024202736
Conflicting classifications of pathogenicity
Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
Health Risk
RS111745899
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
Health Risk
RS112478200
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
Health Risk
RS11652075
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
Health Risk
RS1193362044
Conflicting classifications of pathogenicity
Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
Health Risk
RS138100360
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Pityriasis rubra pilaris, Psoriasis 2
Health Risk
RS138579421
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
Health Risk
RS138616955
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
Health Risk
RS138833596
Conflicting classifications of pathogenicity
Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
Health Risk
RS139467141
Conflicting classifications of pathogenicity
Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
Health Risk
All Variants (78)
RSID Category Clinical Significance Conditions
RS11653893 Health Risk Benign; association Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS34367357 Health Risk Benign/Likely benign; association Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS1024202736 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS111745899 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS112478200 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS11652075 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS1193362044 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS138100360 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris, Psoriasis 2
RS138579421 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS138616955 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS138833596 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS139467141 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS141698692 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS141847758 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS143600438 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS143747620 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS144636413 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS145167842 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS145876317 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS146214639 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS147432650 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS147466598 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS148170776 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS149287760 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS150424747 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS150536049 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS183322775 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS199537188 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS199793195 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS200132496 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS200790561 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS200837077 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS202094920 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS2144281783 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris, Psoriasis 2
RS368239982 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS369755459 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS372001018 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS372790630 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS373428751 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS374847486 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS376524884 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS377226624 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS4889990 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS4889991 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Pityriasis rubra pilaris
RS528408567 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pityriasis rubra pilaris, Psoriasis 2
RS534581445 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Autoinflammatory syndrome
RS538251591 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS538572480 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Inborn genetic diseases
RS549347508 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS559363898 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
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