CARD14 Chromosome 17

Caspase recruitment domain family member 14
78 variants 78 Health Risk

Upload your DNA to see your personal genotypes for variants in CARD14.

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
RS567315820 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS574982768 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS575328953 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS748808582 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris, Psoriasis 2
RS749480979 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS753859758 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris, Psoriasis 2
RS753922155 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS758642695 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS759612018 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS768362011 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS768891477 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS768959428 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Autoinflammatory syndrome
RS771413361 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2, Inborn genetic diseases
RS8069255 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Psoriasis 2
RS955758766 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris, Autoinflammatory syndrome
RS1390003312 Health Risk Likely pathogenic Pityriasis rubra pilaris, Psoriasis 2, Pityriasis rubra pilaris
RS1567872320 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS1598639584 Health Risk Pathogenic Psoriasis 2, Pityriasis rubra pilaris, Papulosquamous eruptions
RS1598639617 Health Risk Pathogenic Papulosquamous eruptions, Pityriasis rubra pilaris, Psoriasis 2
RS1598639659 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS1598639974 Health Risk Pathogenic Papulosquamous eruptions, Papulosquamous eruptions
RS281875212 Health Risk Pathogenic Psoriasis 2, Psoriasis 2
RS281875213 Health Risk Pathogenic Psoriasis 2, Psoriasis 2
RS281875214 Health Risk Pathogenic PSORIASIS 2, PUSTULAR, PSORIASIS 2
RS281875215 Health Risk Pathogenic Psoriasis 2, Papulosquamous eruptions, Pityriasis rubra pilaris
RS587777763 Health Risk Pathogenic Psoriasis 2, Psoriasis 2
RS886041402 Health Risk Pathogenic Pityriasis rubra pilaris, Psoriasis 2, Pityriasis rubra pilaris
RS387907240 Health Risk Pathogenic/Likely pathogenic Pityriasis rubra pilaris, Papulosquamous eruptions, Psoriasis 2
« Prev 1 2
Sign Up to Analyze Your DNA Log In