Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 163 variants

NM_001134225.2

p.Q39*

c.115C>T

NM_001134225.2

p.T599A

c.1795A>G

NM_001134225.2

p.M112I

c.336G>A

NM_001134225.2

p.M112I

c.336G>C

NM_001134225.2

p.M112I

c.336G>T

NM_001134225.2

p.W171*

c.512G>A

NM_001134225.2

p.W171*

c.513G>A

NM_001134225.2

p.R216*

c.646C>T

NM_001134225.2

p.R216Q

c.647G>A

NM_001134225.2

p.S319L

c.956C>T

NM_001134225.2

p.R896H

c.2687G>A

NM_001134225.2

p.M915delFs

c.2744delT