SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name O15078

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
O15078 CE290_HUMAN joubert syndrome 5 p.Trp7Cys
p.Glu534Lys
p.Ile2134Thr



O15078 CE290_HUMAN senior-loken syndrome 6 p.Trp7Cys

O15078 CE290_HUMAN leber congenital amaurosis 10 p.Ser2263Gly

O15078 CE290_HUMAN meckel syndrome 4
O15078 CE290_HUMAN cutaneous t-cell lymphomas
O15078 CE290_HUMAN bardet-biedl syndrome 14