Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_001146033.1

p.V104L

c.310G>T

NM_001146033.1

p.V104L

c.310G>C

NM_001146033.1

p.V104M

c.310G>A

NM_001146033.1

p.R168*

c.502C>T

NM_001146033.1

p.I271T

c.812T>C

NM_001146033.1

p.N7insFs

c.20dupA

NM_001146033.1

p.C19_P21delFs

c.57_63del7

NM_001146033.1

p.W26R

c.76T>C

NM_001146033.1

p.W26R

c.76T>A

NM_001146033.1

p.Y63*

c.189C>G

NM_001146033.1

p.Y63*

c.189C>A

NM_001146033.1

p.S57_Y63del7

c.169_188del21