Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001322255.2

p.R63P

c.188G>C

NM_001322255.2

p.T72I

c.215C>T

NM_001322255.2

p.R11_G12insFs

c.33_34ins5

NM_001322255.2

p.G21R

c.61G>C

NM_001322255.2

p.G21R

c.61G>A

NM_001322255.2

p.V43I

c.127G>A

NM_001322255.2

p.G51Splc

c.151+48G>C

NM_001322255.2

p.G51Splc

c.152-3C>T

NM_001322255.2

p.A56D

c.167C>A

NM_001322255.2

p.E98delFs

c.292delC

NM_001322255.2

p.G117R

c.349G>C

NM_001322255.2

p.G117R

c.349G>A