Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 122 variants

NM_018946.4

p.Y188H

c.562T>C

NM_018946.4

p.R237C

c.709C>T

NM_018946.4

p.R151H

c.452G>A

NM_018946.4

p.G150Splc

c.448+1G>A

NM_018946.4

p.I327ins0

c.979_981dupATC

NM_018946.4

p.H29N

c.85C>A

NM_018946.4

p.M117I

c.351G>A

NM_018946.4

p.G133V

c.398G>T

NM_018946.4

p.A147D

c.440C>A

NM_018946.4

p.P189L

c.566C>T

NM_018946.4

p.S201S

c.603G>A

NM_018946.4

p.M1insFs

c.1dupA