Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001005517.1

p.K299delFs

c.895delA

NM_001005517.1

p.K299fs

c.895_896fs

NM_001005517.1

p.I206V

c.616A>G

NM_001005517.1

p.I301fs

c.901_902fs

NM_001005517.1

p.R54H

c.161G>A

NM_001005517.1

p.T78N

c.233C>A

NM_001005517.1

p.D89N

c.265G>A

NM_001005517.1

p.T139M

c.416C>T

NM_001005517.1

p.R3K

c.8G>A

NM_001005517.1

p.I34M

c.102C>G

NM_001005517.1

p.Y35C

c.104A>G

NM_001005517.1

p.L45Q

c.134T>A