Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001164407.2

p.R76delFs

c.227_228delGC

NM_001164407.2

p.P75fs

c.223_224fs

NM_001164407.2

p.R76fs

c.226_227fs

NM_001164407.2

p.D107_L108insFs

c.320_323dup4

NM_001164407.2

p.L109fs

c.325_326fs

NM_001164407.2

p.S142S

c.426T>C

NM_001164407.2

p.S154F

c.461C>T

NM_001164407.2

p.M184I

c.552G>T

NM_001164407.2

p.M184I

c.552G>C

NM_001164407.2

p.M184I

c.552G>A

NM_001164407.2

p.V208I

c.622G>A

NM_001164407.2

p.R220C

c.658C>T