Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001128214.2

p.R216R

c.648G>A

NM_001128214.2

p.M10I

c.30G>A

NM_001128214.2

p.M10I

c.30G>C

NM_001128214.2

p.M10I

c.30G>T

NM_001128214.2

p.F42fs

c.124_125fs

NM_001128214.2

p.G43insFs

c.127dupG

NM_001128214.2

p.A49V

c.146C>T

NM_001128214.2

p.R50Q

c.149G>A

NM_001128214.2

p.R60Q

c.179G>A

NM_001128214.2

p.V68I

c.202G>A

NM_001128214.2

p.K165E

c.493A>G

NM_001128214.2

p.K165N

c.495G>C