Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

NM_005511.2

p.E26*

c.76G>T

NM_005511.2

p.E90G

c.269A>G

NM_005511.2

p.P115S

c.343C>T

NM_005511.2

p.M1V

c.1A>G

NM_005511.2

p.R3I

c.8G>T

NM_005511.2

p.D5H

c.13G>C

NM_005511.2

p.T22S

c.64A>T

NM_005511.2

p.T22S

c.65C>G

NM_005511.2

p.G38E

c.113G>A

NM_005511.2

p.Y47C

c.140A>G

NM_005511.2

p.R51*

c.151C>T

NM_005511.2

p.R51Q

c.152G>A