Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

NM_001394396.1

p.R347*

c.1039C>T

NM_001394396.1

p.G86*

c.256G>T

NM_001394396.1

p.F282L

c.844T>C

NM_001394396.1

p.F282L

c.846T>A

NM_001394396.1

p.F282L

c.846T>G

NM_001394396.1

p.M1K

c.2T>A

NM_001394396.1

p.D16N

c.46G>A

NM_001394396.1

p.R23fs

c.67_68fs

NM_001394396.1

p.D40D

c.120C>T

NM_001394396.1

p.A41fs

c.121_122fs

NM_001394396.1

p.Y70_Q74del0

c.208_222del15

NM_001394396.1

p.A68T

c.202G>A