Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_001114108.2

p.L366P

c.1097T>C

NM_001114108.2

p.A510V

c.1529C>T

NM_001114108.2

p.R229H

c.686G>A

NM_001114108.2

p.L14V

c.40C>G

NM_001114108.2

p.K351E

c.1051A>G

NM_001114108.2

p.D17A

c.50A>C

NM_001114108.2

p.W250*

c.749G>A

NM_001114108.2

p.W250*

c.750G>A

NM_001114108.2

p.R259W

c.775C>T

NM_001114108.2

p.Y20C

c.59A>G

NM_001114108.2

p.L21insFs

c.62_63ins4

NM_001114108.2

p.L21fs

c.61_62fs