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Mutations on the Protein: P42336 From Positions: 374 To 427

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Swiss-Prot Polymorphism: VAR_069790
p.ARG382LYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_026171
p.CYS420ARG
N/A
N/A
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE)


Swiss-Prot Disease: VAR_069254
p.CYS378TYR
N/A
N/A
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)


dbSNP Polymorphism: rs3729680
p.ILE391MET
N/A
N/A
N/A


OMIM Disease: 171834.0019
p.ARG382LYS
N/A
N/A
COWDEN DISEASE 5


OMIM Disease: 171834.0010
p.CYS420ARG
N/A
N/A
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL||NEVI, SOMATIC


OMIM Disease: 171834.0012
p.CYS378TYR
N/A
N/A
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC






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