Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

NM_001366230.1

p.R32G

c.94C>G

NM_001366230.1

p.K342E

c.1024A>G

NM_001366230.1

p.I476L

c.1426A>T

NM_001366230.1

p.R615L

c.1844G>T

NM_001366230.1

p.R41Splc

c.122+24596T>C

NM_001366230.1

p.R66H

c.197G>A

NM_001366230.1

p.V73I

c.217G>A

NM_001366230.1

p.E79V

c.236A>T

NM_001366230.1

p.S127*

c.380C>A

NM_001366230.1

p.S127*

c.380C>G

NM_001366230.1

p.G128_D129insFs

c.384_385insT

NM_001366230.1

p.Y156N

c.466T>A