Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001319674.2

p.V8G

c.23T>G

NM_001319674.2

p.E5D

c.15A>T

NM_001319674.2

p.V6_S7ins1

c.18_19insGTT

NM_001319674.2

p.L35V

c.103T>G

NM_001319674.2

p.G43Splc

c.128+1G>T

NM_001319674.2

p.G43Splc

c.128+47C>T

NM_001319674.2

p.H64Q

c.192C>A

NM_001319674.2

p.H64Q

c.192C>G

NM_001319674.2

p.G69R

c.205G>A

NM_001319674.2

p.G69R

c.205G>C

NM_001319674.2

p.D71insFs

c.212dupA

NM_001319674.2

p.E79K

c.235G>A