Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001242739.2

p.K87insFs

c.260dupA

NM_001242739.2

p.G51D

c.152G>A

NM_001242739.2

p.S59*

c.176C>G

NM_001242739.2

p.K87delFs

c.260delA

NM_001242739.2

p.V92G

c.275T>G

NM_001242739.2

p.C117R

c.349T>C

NM_001242739.2

p.Q134Q

c.402G>A

NM_001242739.2

p.Y143insFs

c.428_429ins20

NM_001242739.2

p.C148R

c.442T>C

NM_001242739.2

p.L166P

c.497T>C

NM_001242739.2

p.K175N

c.525G>C

NM_001242739.2

p.K175N

c.525G>T