SWISSVAR

1 protein found in SwissVar (25 variants)

with gene/protein name P02647

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)
P02647 APOA1_HUMAN p.Pro27Arg
p.Pro27His
p.Pro28Arg
p.Arg34Leu
p.Ala61Thr
p.Thr92Ile
p.Asp113Glu
p.Ala119Asp
p.Asp126His
p.Asp127Asn
p.Lys131Met
p.Trp132Arg
p.Glu134Lys
p.Glu160Lys
p.Glu163Gly
p.Pro167Arg
p.Leu168Arg
p.Glu171Val
p.Val180Glu
p.Arg184Pro
p.Pro189Arg
p.Arg197Cys
p.Glu222Lys
2A01A (3)
2A01A (3)
2A01B (4)
2A01B (10)
2A01B (37)
2A01A (68)
2A01A (89)
2A01C (95)
2A01C (102)
2A01B (103)
2A01B (107)
2A01C (108)
2A01B (110)
2A01C (136)
2A01A (139)
2A01B (143)
2A01A (144)
2A01B (147)
2A01B (156)
2A01B (160)
2A01C (165)
2A01B (173)
2A01B (198)
P02647 APOA1_HUMAN high density lipoprotein deficiency 2
P02647 APOA1_HUMAN high density lipoprotein deficiency 1
P02647 APOA1_HUMAN amyloid polyneuropathy-nephropathy iowa type
P02647 APOA1_HUMAN amyloidosis 8 p.Gly50Arg
p.Leu84Arg
2A01B (26)
2A01B (60)