Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_007176.4

p.L8*

c.23T>A

NM_007176.4

p.T23A

c.67A>G

NM_007176.4

p.R28*

c.82C>T

NM_007176.4

p.Y77H

c.229T>C

NM_007176.4

p.T83A

c.247A>G

NM_007176.4

p.P110_M112del0

c.329_334del6

NM_007176.4

p.E131K

c.391G>A

NM_007176.4

p.V133L

c.397G>C