Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 152 variants

NM_001199298.2

p.R15W

c.43C>T

NM_001199298.2

p.P435L

c.1304C>T

NM_001199298.2

p.Y564H

c.1690T>C

NM_001199298.2

p.Q666P

c.1997A>C

NM_001199298.2

p.C511R

c.1531T>C

NM_001199298.2

p.R624*

c.1870C>T

NM_001199298.2

p.Q78Splc

c.233-2A>G

NM_001199298.2

p.K559Splc

c.1677-1G>A

NM_001199298.2

p.K7insFs

c.21dupA

NM_001199298.2

p.T24delFs

c.70delT

NM_001199298.2

p.R34H

c.101G>A

NM_001199298.2

p.K63R

c.188A>G