Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

NM_001382000.1

p.S28S

c.84C>T

NM_001382000.1

p.E1186K

c.3556G>A

NM_001382000.1

p.S1264L

c.3791C>T

NM_001382000.1

p.Y40*

c.120C>A

NM_001382000.1

p.Y40*

c.120C>G

NM_001382000.1

p.G48G

c.144C>A

NM_001382000.1

p.Q73Q

c.219G>A

NM_001382000.1

p.A101T

c.301G>A

NM_001382000.1

p.K217N

c.651A>C

NM_001382000.1

p.G283_K284delFs

c.847_851del5

NM_001382000.1

p.G283fs

c.847_848fs

NM_001382000.1

p.L320L

c.960A>G