Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 345 variants

NM_000502.6

p.Q122H

c.366G>C

NM_000502.6

p.Q122H

c.366G>T

NM_000502.6

p.R200W

c.598C>T

NM_000502.6

p.R286H

c.857G>A

NM_000502.6

p.N572Y

c.1714A>T

NM_000502.6

p.M1I

c.3G>A

NM_000502.6

p.M1I

c.3G>T

NM_000502.6

p.L7delFs

c.19delC

NM_000502.6

p.G193delFs

c.577delG

NM_000502.6

p.Q229*

c.685C>T

NM_000502.6

p.C257*

c.771C>A

NM_000502.6

p.K267K

c.801G>A