Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 198 variants

NM_001144831.2

p.M1V

c.1A>G

NM_001144831.2

p.M1T

c.2T>C

NM_001144831.2

p.Q223R

c.668A>G

NM_001144831.2

p.L294F

c.880C>T

NM_001144831.2

p.M1delFs

c.2delA

NM_001144831.2

p.R71Splc

c.212+1G>A

NM_001144831.2

p.D98Splc

c.292+1G>A

NM_001144831.2

p.Q122*

c.364C>T

NM_001144831.2

p.A146V

c.437C>T

NM_001144831.2

p.D180N

c.538G>A

NM_001144831.2

p.Y193insFs

c.579dupC

NM_001144831.2

p.Q268R

c.803A>G