Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001040167.2

p.Q329_V330Splc

c.988-12C>T

Surrounding Variants

NM_001040167.2

p.R341Q

c.1022G>A

NM_001040167.2

p.V346M

c.1036G>A

NM_001040167.2

p.P349fs

c.1045_1046fs

NM_001040167.2

p.A354T

c.1060G>A

NM_001040167.2

p.D355N

c.1063G>A

NM_001040167.2

p.R360C

c.1078C>T

NM_001040167.2

p.L318Q

c.953T>A

NM_001040167.2

p.G309R

c.925G>C

NM_001040167.2

p.R307H

c.920G>A

NM_001040167.2

p.R307C

c.919C>T

NM_001040167.2

p.V297G

c.890T>G

NM_001040167.2

p.P288insFs

c.863dupC