Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 40 variants

NM_001366386.2

p.T255I

c.764C>T

NM_001366386.2

p.R375C

c.1123C>T

NM_001366386.2

p.E4G

c.11A>G

NM_001366386.2

p.E24Q

c.70G>C

NM_001366386.2

p.D44insFs

c.130_131ins8

NM_001366386.2

p.G59fs

c.175_176fs

NM_001366386.2

p.E82Q

c.244G>C

NM_001366386.2

p.Y118H

c.352T>C

NM_001366386.2

p.K119E

c.355A>G

NM_001366386.2

p.Q127E

c.379C>G

NM_001366386.2

p.V133L

c.397G>C

NM_001366386.2

p.E139Q

c.415G>C