SWISSVAR
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1 protein found in SwissVar (7 variants)

with gene/protein name P13942

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)
P13942 COBA2_HUMAN otospondylomegaepiphyseal dysplasia, autosomal dominant p.Gly1441Glu

P13942 COBA2_HUMAN otospondylomegaepiphyseal dysplasia, autosomal recessive p.Gly661Arg

P13942 COBA2_HUMAN deafness, autosomal dominant, 13 p.Gly808Glu
p.Arg1034Cys


P13942 COBA2_HUMAN deafness, autosomal recessive, 53 p.Ala37Ser
p.Pro621Thr
p.Pro888Thr



P13942 COBA2_HUMAN fibrochondrogenesis 2