Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001384369.1

p.P39A

c.115C>G

NM_001384369.1

p.L12F

c.34C>T

NM_001384369.1

p.G42D

c.125G>A

NM_001384369.1

p.R57H

c.170G>A

NM_001384369.1

p.A103V

c.308C>T

NM_001384369.1

p.Q110_L111Splc

c.330+7G>A

NM_001384369.1

p.A130T

c.388G>A

NM_001384369.1

p.P132S

c.394C>T

NM_001384369.1

p.T135I

c.404C>T

NM_001384369.1

p.V137insFs

c.410dupT

NM_001384369.1

p.I152M

c.456C>G

NM_001384369.1

p.L181L

c.541C>T