SWISSVAR
Home  |  Contact

1 protein found in SwissVar (3 variants)

with gene/protein name Q9BV79

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)
Q9BV79 MECR_HUMAN dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities p.Gly232Glu
p.Arg258Trp
p.Tyr285Cys