Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 678 variants

NM_004629.2

p.V103Splc

c.307+1G>C

NM_004629.2

p.Q356*

c.1066C>T

NM_004629.2

p.T297I

c.890C>T

NM_004629.2

p.E105*

c.313G>T

NM_004629.2

p.Y213_Q215delFs

c.637_643del7

NM_004629.2

p.G494Splc

c.1480+1G>C

NM_004629.2

p.L71P

c.212T>C

NM_004629.2

p.R513Q

c.1538G>A

NM_004629.2

p.R548*

c.1642C>T

NM_004629.2

p.S7F

c.20C>T

NM_004629.2

p.R359Splc

c.1077-2A>G

NM_004629.2

p.P241L

c.722C>T