TRPV3 Chromosome 17

Transient receptor potential cation channel subfamily V member 3
25 variants 25 Health Risk

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What This Gene Does
This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000167723
Associated Conditions (4)
Isolated focal non-epidermolytic palmoplantar keratoderma
Inborn genetic diseases
TRPV3-related disorder
Olmsted syndrome 1
Key Variants
RS11654533
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS137894635
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS146839243
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS147669174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148038901
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150743616
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, TRPV3-related disorder, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS151284467
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200894372
Conflicting classifications of pathogenicity
Health Risk
RS201062148
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS367941175
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS370662760
Conflicting classifications of pathogenicity
Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
Health Risk
RS375812083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (25)
RSID Category Clinical Significance Conditions
RS11654533 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS137894635 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
RS146839243 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
RS147669174 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148038901 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150743616 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, TRPV3-related disorder, Isolated focal non-epidermolytic palmoplantar keratoderma
RS151284467 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200894372 Health Risk Conflicting classifications of pathogenicity
RS201062148 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS367941175 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS370662760 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
RS375812083 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541746987 Health Risk Conflicting classifications of pathogenicity
RS550564945 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS746336365 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS749226142 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS764913664 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
RS781225444 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases, Isolated focal non-epidermolytic palmoplantar keratoderma
RS1057517884 Health Risk Pathogenic Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma, Olmsted syndrome 1
RS1057524115 Health Risk Pathogenic
RS199473704 Health Risk Pathogenic Olmsted syndrome 1, Olmsted syndrome 1, Olmsted syndrome 1
RS199473705 Health Risk Pathogenic Olmsted syndrome 1, Olmsted syndrome 1
RS372767436 Health Risk Pathogenic
RS786205869 Health Risk Pathogenic Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS786205868 Health Risk Pathogenic/Likely pathogenic Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma, Olmsted syndrome 1
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