Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_003097.6

p.A162fs

c.484_485fs

NM_003097.6

p.R25*

c.73C>T

NM_003097.6

p.R65W

c.193C>T

NM_003097.6

p.G111C

c.331G>T

NM_003097.6

p.Q140_V141Splc

c.420+1G>T

NM_003097.6

p.A157T

c.469G>A

NM_003097.6

p.M1insFs

c.3dupG

NM_003097.6

p.G4insFs

c.12dupC

NM_003097.6

p.K5insFs

c.15dupG

NM_003097.6

p.L10M

c.28C>A

NM_003097.6

p.D35E

c.105C>A

NM_003097.6

p.H37R

c.110A>G