Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_001100389.2

p.R124Q

c.371G>A

NM_001100389.2

p.G4G

c.12G>C

NM_001100389.2

p.G5insFs

c.14dupG

NM_001100389.2

p.R6fs

c.16_17fs

NM_001100389.2

p.D9_G10Splc

c.27+73G>A

NM_001100389.2

p.T15A

c.43A>G

NM_001100389.2

p.L28I

c.82C>A

NM_001100389.2

p.H32L

c.95A>T

NM_001100389.2

p.Q35*

c.103C>T

NM_001100389.2

p.Q35P

c.104A>C

NM_001100389.2

p.H58Q

c.174T>A

NM_001100389.2

p.H58_L59Splc

c.174+1G>A