Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001322331.2

p.K116R

c.347A>G

NM_001322331.2

p.I46V

c.136A>G

NM_001322331.2

p.S15_F16delFs

c.45_48del4

NM_001322331.2

p.G4V

c.11G>T

NM_001322331.2

p.R14H

c.41G>A

NM_001322331.2

p.F21F

c.63C>T

NM_001322331.2

p.V29V

c.87G>A

NM_001322331.2

p.Q33K

c.97C>A

NM_001322331.2

p.D45Splc

c.134-39A>G

NM_001322331.2

p.I46T

c.137T>C

NM_001322331.2

p.D45_L48delFs

c.134_143del10

NM_001322331.2

p.D62Splc

c.184+60C>T