Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

NM_001244038.2

p.R360K

c.1079G>A

NM_001244038.2

p.V47L

c.139G>C

NM_001244038.2

p.S410*

c.1229C>A

NM_001244038.2

p.S410*

c.1229C>G

NM_001244038.2

p.N64insFs

c.191dupA

NM_001244038.2

p.N64fs

c.190_191fs

NM_001244038.2

p.P79H

c.236C>A

NM_001244038.2

p.G107_G116delFs

c.319_347del29

NM_001244038.2

p.G107A

c.320G>C

NM_001244038.2

p.Q112P

c.335A>C

NM_001244038.2

p.S145P

c.433T>C

NM_001244038.2

p.H223P

c.668A>C