Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 214 variants

NM_002076.4

p.R355*

c.1063C>T

NM_002076.4

p.V30M

c.88G>A

NM_002076.4

p.P66P

c.198G>A

NM_002076.4

p.Q272*

c.814C>T

NM_002076.4

p.Q390*

c.1168C>T

NM_002076.4

p.D380insFs

c.1138_1139ins5

NM_002076.4

p.Q390delFs

c.1169delT

NM_002076.4

p.R2W

c.4C>T

NM_002076.4

p.L28fs

c.82_83fs

NM_002076.4

p.L28delFs

c.83delA

NM_002076.4

p.V50M

c.148G>A

NM_002076.4

p.R193W

c.577C>T