Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

NM_020843.4

p.Q674_E675Splc

c.2023-2A>G

NM_020843.4

p.S1219N

c.3656G>A

NM_020843.4

p.E620del1

c.1858_1859delTTC

NM_020843.4

p.R727*

c.2179C>T

NM_020843.4

p.A372delFs

c.1116delA

NM_020843.4

p.L936delFs

c.2806delG

NM_020843.4

p.I991_N992delFs

c.2973_2976del4

NM_020843.4

p.Y118fs

c.352_353fs

NM_020843.4

p.R277*

c.829C>T

NM_020843.4

p.E290delFs

c.868_869delTC

NM_020843.4

p.Y364insFs

c.1092dupT

NM_020843.4

p.R366*

c.1096C>T