Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 75 variants

NM_001080539.2

p.K283insFs

c.849dupA

NM_001080539.2

p.Q280delFs

c.839delA

NM_001080539.2

p.L395S

c.1184T>C

NM_001080539.2

p.C97_E98delFs

c.291_292delTG

NM_001080539.2

p.E284fs

c.850_851fs

NM_001080539.2

p.C97*

c.291T>A

NM_001080539.2

p.R103*

c.307C>T

NM_001080539.2

p.R207H

c.620G>A

NM_001080539.2

p.E284fs

c.850_851fs

NM_001080539.2

p.L328W

c.983T>G

NM_001080539.2

p.K4N

c.12G>C

NM_001080539.2

p.E27K

c.79G>A