Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

NM_001013672.5

p.E56K

c.166G>A

NM_001013672.5

p.Q136_S137delFs

c.406_409del4

NM_001013672.5

p.Q136fs

c.406_407fs

NM_001013672.5

p.A211_D220del10

c.631_659del30

NM_001013672.5

p.E230K

c.688G>A

NM_001013672.5

p.F235_I245del0

c.704_733del30

NM_001013672.5

p.I245F

c.733A>T

NM_001013672.5

p.E270K

c.808G>A

NM_001013672.5

p.T317P

c.949A>C

NM_001013672.5

p.T317I

c.950C>T

NM_001013672.5

p.P337T

c.1009C>A

NM_001013672.5

p.E360K

c.1078G>A