Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_178562.5

p.Y220*

c.660C>A

NM_178562.5

p.Y220*

c.660C>G

NM_178562.5

p.M31I

c.93G>A

NM_178562.5

p.R88H

c.263G>A

NM_178562.5

p.Q95H

c.285G>C

NM_178562.5

p.Q95H

c.285G>T

NM_178562.5

p.L107fs

c.319_320fs

NM_178562.5

p.L107_Q108insFs

c.321_322ins5

NM_178562.5

p.L109L

c.325C>T

NM_178562.5

p.D120Y

c.358G>T

NM_178562.5

p.N145D

c.433A>G

NM_178562.5

p.S174fs

c.520_521fs