Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001413755.1

p.Q97*

c.289C>T

NM_001413755.1

p.P130S

c.388C>T

NM_001413755.1

p.N150N

c.450C>T

NM_001413755.1

p.H153H

c.459C>T

NM_001413755.1

p.I169I

c.507C>T

NM_001413755.1

p.T184I

c.551C>T

NM_001413755.1

p.T185M

c.554C>T

NM_001413755.1

p.Y210*

c.630C>A

NM_001413755.1

p.Y210*

c.630C>G

NM_001413755.1

p.L227F

c.679C>T