Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 161 variants

NM_005050.4

p.E368K

c.1102G>A

NM_005050.4

p.Y319C

c.956A>G

NM_005050.4

p.N141K

c.423C>G

NM_005050.4

p.N141K

c.423C>A

NM_005050.4

p.A304T

c.910G>A

NM_005050.4

p.R432Q

c.1295G>A

NM_005050.4

p.R471W

c.1411C>T

NM_005050.4

p.S181Splc

c.542+1G>T

NM_005050.4

p.R579Q

c.1736G>A

NM_005050.4

p.Y129insFs

c.385_386insG

NM_005050.4

p.R251C

c.751C>T

NM_005050.4

p.R343I

c.1028G>T