Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001080454.2

p.D307_T308Splc

c.921+1G>A

Surrounding Variants

NM_001080454.2

p.F305L

c.915C>A

NM_001080454.2

p.F305L

c.915C>G

NM_001080454.2

p.F305L

c.913T>C

NM_001080454.2

p.T302I

c.905C>T

NM_001080454.2

p.A298fs

c.892_893fs

NM_001080454.2

p.A298delFs

c.893_894delCA

NM_001080454.2

p.V275I

c.823G>A

NM_001080454.2

p.T251I

c.752C>T

NM_001080454.2

p.S244insFs

c.730_731insC

NM_001080454.2

p.S244fs

c.730_731fs

NM_001080454.2

p.Q243delFs

c.727delC

NM_001080454.2

p.H241N

c.721C>A