Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 102 variants

NM_144604.4

p.R408delFs

c.1223_1224delGA

NM_144604.4

p.R417_R419ins1

c.1251_1256dup6

NM_144604.4

p.E418_R419del0

c.1252_1257del6

NM_144604.4

p.R539Q

c.1616G>A

NM_144604.4

p.T677insFs

c.2030dupC

NM_144604.4

p.R680fs

c.2038_2039fs

NM_144604.4

p.R680fs

c.2038_2039fs

NM_144604.4

p.D27D

c.81C>T

NM_144604.4

p.L29V

c.85C>G

NM_144604.4

p.L48V

c.142C>G

NM_144604.4

p.E52*

c.154G>T

NM_144604.4

p.E63A

c.188A>C