Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 134 variants

NM_000922.4

p.R783*

c.2347C>T

NM_000922.4

p.S493T

c.1477T>A

NM_000922.4

p.R732*

c.2194C>T

NM_000922.4

p.R53G

c.157C>G

NM_000922.4

p.F129del1

c.385_386delTTC

NM_000922.4

p.D178G

c.533A>G

NM_000922.4

p.G254insFs

c.761dupG

NM_000922.4

p.K426_G427Splc

c.1279-2A>G

NM_000922.4

p.S578Splc

c.1734-2A>T

NM_000922.4

p.R725C

c.2173C>T

NM_000922.4

p.H821R

c.2462A>G

NM_000922.4

p.Y844*

c.2532C>A