Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_005615.5

p.R89Q

c.266G>A

NM_005615.5

p.K26M

c.77A>T

NM_005615.5

p.I53V

c.157A>G

NM_005615.5

p.N54S

c.161A>G

NM_005615.5

p.Q58H

c.174G>C

NM_005615.5

p.K61K

c.183G>A

NM_005615.5

p.R88L

c.263G>T

NM_005615.5

p.N91T

c.272A>C

NM_005615.5

p.G109*

c.325G>T

NM_005615.5

p.Q113insFs

c.338dupA

NM_005615.5

p.C114fs

c.340_341fs

NM_005615.5

p.D147H

c.439G>C