SWISSVAR
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1 protein found in SwissVar (19 variants)

with gene/protein name P35914

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)
P35914 HMGCL_HUMAN 3-hydroxy-3-methylglutaryl-coa lyase deficiency p.Glu37Lys
p.Arg41Gln
p.Asp42Glu
p.Asp42His
p.Asp42Gly
p.Lys48Asn
p.Val70Leu
p.Ser75Arg
p.Ser142Phe
p.Arg165Gln
p.Cys174Tyr
p.Phe192Ser
p.Ile200Phe
p.Ser201Tyr
p.Gly203Glu
p.Asp204Asn
p.His233Arg
p.Leu263Pro
p.Glu279Lys
2CW6A (37)
2CW6A (41)
2CW6A (42)
2CW6A (42)
2CW6A (42)
2CW6A (48)
2CW6D (70)
2CW6C (75)
2CW6C (142)

2CW6A (174)
2CW6C (192)
2CW6D (200)
2CW6D (201)
2CW6A (203)
2CW6A (204)
2CW6A (233)
2CW6D (263)
2CW6C (279)