SWISSVAR
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1 protein found in SwissVar (19 variants)

with gene/protein name Q9H2C0

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)
Q9H2C0 GAN_HUMAN giant axonal neuropathy 1, autosomal recessive p.Arg15Ser
p.Ala51Pro
p.Ser52Gly
p.Ser79Leu
p.Val82Phe
p.Ile86Phe
p.Tyr89Cys
p.Arg138His
p.Val195Phe
p.Arg269Gln
p.Leu309Arg
p.Pro315Leu
p.Gly368Arg
p.Ile423Thr
p.Gly474Arg
p.Glu486Lys
p.Arg545His
p.Arg545Cys
p.Cys570Tyr
2PPIA (15)
2PPIA (51)
2PPIA (52)
2PPIA (79)
2PPIA (82)
3HVEA (86)
2PPIA (89)
3HVEA (138)
3HVEA (195)