Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 27 variants

NM_013388.6

p.R357C

c.1069C>T

NM_013388.6

p.A30P

c.88G>C

NM_013388.6

p.S288C

c.863C>G

NM_013388.6

p.R4R

c.12C>A

NM_013388.6

p.P13P

c.39G>C

NM_013388.6

p.Q20insFs

c.59dupA

NM_013388.6

p.V21fs

c.61_62fs

NM_013388.6

p.H98L

c.293A>T

NM_013388.6

p.E106*

c.316G>T

NM_013388.6

p.G120E

c.359G>A

NM_013388.6

p.S152T

c.455G>C

NM_013388.6

p.F162V

c.484T>G