Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_015296.3

p.Q240_N241Splc

c.720+43A>G

NM_001366683.2

p.Q239_N240Splc

c.717+43A>G

Surrounding Variants

NM_001366683.2

p.V238I

c.712G>A

NM_001366683.2

p.K223R

c.668A>G

NM_001366683.2

p.K217E

c.649A>G

NM_001366683.2

p.F200del1

c.598_599delAAA

NM_001366683.2

p.N186S

c.557A>G

NM_001366683.2

p.D159insFs

c.476_477ins5

NM_001366683.2

p.K146E

c.436A>G

NM_001366683.2

p.N139K

c.417C>G

NM_001366683.2

p.S118F

c.353C>T

NM_001366683.2

p.N240D

c.718A>G

NM_001366683.2

p.V243L

c.727G>C

NM_001366683.2

p.A247G

c.740C>G