Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001100389.2

p.H58Q

c.174T>A

Surrounding Variants

NM_001100389.2

p.H58_L59Splc

c.174+1G>A

NM_001100389.2

p.Q35P

c.104A>C

NM_001100389.2

p.Q35*

c.103C>T

NM_001100389.2

p.H32L

c.95A>T

NM_001100389.2

p.L28I

c.82C>A

NM_001100389.2

p.T15A

c.43A>G

NM_001100389.2

p.F61fs

c.181_182fs

NM_001100389.2

p.F61delFs

c.183delA

NM_001100389.2

p.V63V

c.189T>A

NM_001100389.2

p.P75P

c.225T>C

NM_001100389.2

p.P83fs

c.247_248fs

NM_001100389.2

p.P83delFs

c.247_248delGG