Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

NM_001100917.2

p.T7A

c.19A>G

NM_001100917.2

p.G19*

c.55G>T

NM_001100917.2

p.M29fs

c.85_86fs

NM_001100917.2

p.F42L

c.124T>C

NM_001100917.2

p.F42L

c.126T>G

NM_001100917.2

p.F42L

c.126T>A

NM_001100917.2

p.L43insFs

c.128dupT

NM_001100917.2

p.Q58*

c.172C>T

NM_001100917.2

p.H79N

c.235C>A

NM_001100917.2

p.V102A

c.305T>C

NM_001100917.2

p.V125I

c.373G>A

NM_001100917.2

p.S127F

c.380C>T