Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 133 variants

NM_144696.6

p.E991del1

c.2971_2973delGAA

NM_144696.6

p.V329_I330delFs

c.987_988delTA

NM_144696.6

p.K987_E988del2

c.2959_2963del6

NM_144696.6

p.R313*

c.937C>T

NM_144696.6

p.I522L

c.1564A>C

NM_144696.6

p.A742V

c.2225C>T

NM_144696.6

p.A868T

c.2602G>A

NM_144696.6

p.D948G

c.2843A>G

NM_144696.6

p.E991_Q992del2

c.2971_2975del6

NM_144696.6

p.Q993E

c.2977C>G

NM_144696.6

p.N42insFs

c.125dupA

NM_144696.6

p.N42fs

c.124_125fs