Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 117 variants

NM_001130045.2

p.S448N

c.1343G>A

NM_001130045.2

p.G578D

c.1733G>A

NM_001130045.2

p.R19R

c.57A>T

NM_001130045.2

p.I161T

c.482T>C

NM_001130045.2

p.A236delFs

c.706delG

NM_001130045.2

p.V249fs

c.745_746fs

NM_001130045.2

p.V249A

c.746T>C

NM_001130045.2

p.G95E

c.284G>A

NM_001130045.2

p.G112R

c.334G>A

NM_001130045.2

p.G112R

c.334G>C

NM_001130045.2

p.A130T

c.388G>A

NM_001130045.2

p.S176insFs

c.526dupA