Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

NM_001004712.2

p.M119V

c.355A>G

NM_001004712.2

p.L145R

c.434T>G

NM_001004712.2

p.M1insFs

c.1dupA

NM_001004712.2

p.M1insFs

c.2dupT

NM_001004712.2

p.Q4insFs

c.11dupA

NM_001004712.2

p.L8insFs

c.23dupT

NM_001004712.2

p.S10*

c.29C>G

NM_001004712.2

p.S10*

c.29C>A

NM_001004712.2

p.F27_F28insFs

c.81_82insT

NM_001004712.2

p.F27fs

c.79_80fs

NM_001004712.2

p.Y61H

c.181T>C

NM_001004712.2

p.L64M

c.190C>A