Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

NM_001080543.2

p.A499V

c.1496C>T

NM_001080543.2

p.R584H

c.1751G>A

NM_001080543.2

p.R609L

c.1826G>T

NM_001080543.2

p.R639W

c.1915C>T

NM_001080543.2

p.M1insFs

c.3dupG

NM_001080543.2

p.S25N

c.74G>A

NM_001080543.2

p.S29N

c.86G>A

NM_001080543.2

p.E41fs

c.121_122fs

NM_001080543.2

p.E41delFs

c.121delC

NM_001080543.2

p.R63Q

c.188G>A

NM_001080543.2

p.W64C

c.192G>T

NM_001080543.2

p.W64C

c.192G>C