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1 protein found in SwissVar (149 variants)

with gene/protein name P04062

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)
P04062 GLCM_HUMAN gaucher disease p.Val54Leu
p.Cys55Ser
p.Phe76Val
p.Thr82Ile
p.Gly85Glu
p.Arg87Gln
p.Arg87Trp
p.Lys118Asn
p.Ala129Thr
p.Ser146Leu
p.Gly152Glu
p.Asn156Asp
p.Ile158Thr
p.Arg159Gln
p.Arg159Trp
p.Pro161Ser
p.Pro161Leu
p.Met162Val
p.Asp166Val
p.Arg170Leu
p.Thr173Pro
p.Thr173Ile
p.Ala175Glu
p.Asp179His
p.Lys196Gln
p.Pro198Thr
p.Pro198Leu
p.Ile200Asn
p.Ile200Ser
p.His201Pro
p.Arg209Cys
p.Arg209Pro
p.Leu213Phe
p.Ala215Asp
p.Pro217Ser
p.Pro221Thr
p.Trp223Arg
p.Leu224Phe
p.Asn227Ser
p.Asn227Lys
p.Gly228Val
p.Ala229Glu
p.Ala229Thr
p.Gly232Glu
p.Gly234Glu
p.Gly234Trp
p.Ser235Pro
p.Lys237Glu
p.Gly241Arg
p.Gly241Glu
p.Tyr244Cys
p.Tyr251His
p.Phe252Ile
p.Phe255Tyr
p.Thr270Arg
p.Ser276Pro
p.Phe290Leu
p.Arg296Gln
p.Phe298Leu
p.Leu303Ile
p.Gly304Asp
p.Pro305Arg
p.Ser310Asn
p.Arg324His
p.Arg324Cys
p.Pro328Leu
p.Lys342Ile
p.Tyr343Cys
p.Ala348Val
p.Trp351Cys
p.Tyr352His
p.Asp354His
p.Ala357Asp
p.Thr362Ile
p.Leu363Pro
p.Gly364Arg
p.Glu365Lys
p.Ala380Thr
p.Cys381Gly
p.Glu388Lys
p.Val391Leu
p.Arg392Gly
p.Arg392Trp
p.Arg398Gln
p.Met400Ile
p.Tyr402Cys
p.Ser403Thr
p.Ser405Asn
p.Ser405Gly
p.Thr408Met
p.Leu410Val
p.Val414Leu
p.Gly416Ser
p.Trp417Gly
p.Asp419His
p.Asp419Asn
p.Asp419Ala
p.Asn421Lys
p.Pro426Leu
p.Gly428Glu
p.Gly429Arg
p.Pro430Leu
p.Asn431Ile
p.Trp432Arg
p.Val433Leu
p.Phe436Ser
p.Asp438Asn
p.Asp438Tyr
p.Ile441Thr
p.Ile441Phe
p.Asp448His
p.Asp448Val
p.Phe450Ile
p.Tyr451His
p.Lys452Gln
p.Pro454Arg
p.Met455Val
p.Phe456Val
p.Tyr457Cys
p.Lys464Glu
p.Leu483Arg
p.Ala485Pro
p.His490Arg
p.Ala495Pro
p.Leu500Pro
p.Asn501Lys
p.Arg502Pro
p.Arg502Cys
p.Gly517Ser
p.Arg535Cys
p.Arg535His



































































































































P04062 GLCM_HUMAN gaucher disease 1 p.Asp63Asn
p.Ile158Ser
p.Arg170Cys
p.Pro221Leu
p.Val230Gly
p.Val230Glu
p.His294Gln
p.Asn409Ser
p.Asn435Thr
p.Pro440Leu
p.Gly460Asp
p.Leu483Pro












P04062 GLCM_HUMAN gaucher disease 2 p.Glu80Lys
p.Arg170Cys
p.Leu483Pro
p.Asp513Tyr




P04062 GLCM_HUMAN gaucher disease 3 p.Val437Leu
p.Thr530Ile


P04062 GLCM_HUMAN gaucher disease 3c
P04062 GLCM_HUMAN gaucher disease perinatal lethal
P04062 GLCM_HUMAN non-immune hydrops fetalis
P04062 GLCM_HUMAN parkinson disease p.Lys46Glu
p.Asp482Asn