Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001001667.1

p.S228A

c.682T>G

NM_001001667.1

p.R129H

c.386G>A

NM_001001667.1

p.L35F

c.103C>T

NM_001001667.1

p.G39E

c.116G>A

NM_001001667.1

p.I44T

c.131T>C

NM_001001667.1

p.T55I

c.164C>T

NM_001001667.1

p.S65F

c.194C>T

NM_001001667.1

p.I112delFs

c.334delA

NM_001001667.1

p.Y130F

c.389A>T

NM_001001667.1

p.D170D

c.510C>T

NM_001001667.1

p.Q184*

c.550C>T

NM_001001667.1

p.S208F

c.623C>T