SWISSVAR
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1 protein found in SwissVar (13 variants)

with gene/protein name Q9BTW9

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)
Q9BTW9 TBCD_HUMAN encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum p.Leu229Arg
p.Thr374Met
p.Arg377Gln
p.Met387Arg
p.Ala475Thr
p.Ala586Val
p.Ala626Thr
p.Arg772Cys
p.Ala921Thr
p.Pro937Arg
p.Thr994Met
p.Val1105Met
p.Pro1122Leu