Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 175 variants

NM_020453.4

p.R1183K

c.3548G>A

NM_020453.4

p.S1389T

c.4166G>C

NM_020453.4

p.T43I

c.128C>T

NM_020453.4

p.A601T

c.1801G>A

NM_020453.4

p.N74S

c.221A>G

NM_020453.4

p.C171R

c.511T>C

NM_020453.4

p.E215Q

c.643G>C

NM_020453.4

p.R266H

c.797G>A

NM_020453.4

p.H351insFs

c.1052_1053insT

NM_020453.4

p.V549M

c.1645G>A

NM_020453.4

p.S959N

c.2876G>A

NM_020453.4

p.L1052_A1053insT

c.3154_3158ins3