SWISSVAR
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1 protein found in SwissVar (5 variants)

with gene/protein name Q9UBK8

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)
Q9UBK8 MTRR_HUMAN homocystinuria-megaloblastic anemia, cble complementation type p.Val56Met
p.Ala129Thr
p.Cys405Arg
p.Gly487Arg
p.Gly554Arg





Q9UBK8 MTRR_HUMAN neural tube defects, folate-sensitive