Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 26 variants

NM_001077619.2

p.F215S

c.644T>C

NM_001077619.2

p.E218A

c.653A>C

NM_001077619.2

p.R20G

c.58C>G

NM_001077619.2

p.E33Q

c.97G>C

NM_001077619.2

p.R48insFs

c.142_143ins44

NM_001077619.2

p.R48R

c.144A>G

NM_001077619.2

p.R58W

c.172C>T

NM_001077619.2

p.R63Q

c.188G>A

NM_001077619.2

p.L74I

c.220T>A

NM_001077619.2

p.R78Q

c.233G>A

NM_001077619.2

p.G82A

c.245G>C

NM_001077619.2

p.A92T

c.274G>A