Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 169 variants

NM_022464.5

p.K343_M344Splc

c.1030-9G>A

NM_022464.5

p.G312insFs

c.936dupG

NM_022464.5

p.R111*

c.331C>T

NM_022464.5

p.L457P

c.1370T>C

NM_022464.5

p.K169_D170insFs

c.506_509dup4

NM_022464.5

p.L316insFs

c.947_948insT

NM_022464.5

p.R92W

c.274C>T

NM_022464.5

p.Q215_M216Splc

c.645+2T>C

NM_022464.5

p.K343_M344Splc

c.1030-18G>A

NM_022464.5

p.H71insFs

c.212dupA

NM_022464.5

p.L313fs

c.937_938fs

NM_022464.5

p.K343_M344Splc

c.1029+1G>A