Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001145197.1

p.L493I

c.1477T>A

NM_001145197.1

p.R611W

c.1831C>T

NM_001145197.1

p.P652L

c.1955C>T

NM_001145197.1

p.P778Q

c.2333C>A

NM_001145197.1

p.P786L

c.2357C>T

NM_001145197.1

p.S798_E799delFs

c.2394_2395delTG

NM_001145197.1

p.D801fs

c.2401_2402fs

NM_001145197.1

p.G803E

c.2408G>A

NM_001145197.1

p.R871*

c.2611C>T

NM_001145197.1

p.H881Y

c.2641C>T

NM_001145197.1

p.T885N

c.2654C>A

NM_001145197.1

p.S916T

c.2746T>A