Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

NM_001320033.2

p.E172_F173Splc

c.517-2A>C

NM_001320033.2

p.V391I

c.1171G>A

NM_001320033.2

p.P560R

c.1679C>G

NM_001320033.2

p.T181M

c.542C>T

NM_001320033.2

p.S292G

c.874A>G

NM_001320033.2

p.A512V

c.1535C>T

NM_001320033.2

p.R39H

c.116G>A

NM_001320033.2

p.A192T

c.574G>A

NM_001320033.2

p.L238fs

c.712_713fs

NM_001320033.2

p.V284M

c.850G>A

NM_001320033.2

p.M1K

c.2T>A

NM_001320033.2

p.E4E

c.12G>A