Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_153638.4

p.R357W

c.1069C>T

NM_001386393.1

p.R247W

c.739C>T

Surrounding Variants

NM_001386393.1

p.R247delFs

c.739delC

NM_153638.4

p.R357Q

c.1070G>A

NM_001386393.1

p.R247Q

c.740G>A

NM_001386393.1

p.R247P

c.740G>C

NM_001386393.1

p.N245insFs

c.735dupT

NM_001386393.1

p.N245S

c.734A>G

NM_001386393.1

p.Q249*

c.745C>T

NM_001386393.1

p.Q249insFs

c.747dupG

NM_001386393.1

p.Q249delFs

c.747delG

NM_001386393.1

p.C250_Y251del1

c.749_751delGCT

NM_001386393.1

p.F244S

c.731T>C

NM_001386393.1

p.Y251_Y252del1

c.752_754delATT

NM_001386393.1

p.Y251H

c.751T>C