SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name Q5T442

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)
Q5T442 CXG2_HUMAN leukodystrophy, hypomyelinating, 2 p.Pro90Ser
p.Tyr272Asp
p.Met286Thr



Q5T442 CXG2_HUMAN spastic paraplegia 44, autosomal recessive p.Ile36Met

Q5T442 CXG2_HUMAN lymphatic malformation 3 p.Ser48Leu
p.Arg260Cys