Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 25 variants

NM_003416.4

p.T5I

c.14C>T

NM_003416.4

p.L43P

c.128T>C

NM_003416.4

p.A76V

c.227C>T

NM_003416.4

p.D83Splc

c.247+3838T>G

NM_003416.4

p.T85M

c.254C>T

NM_003416.4

p.S102*

c.305C>A

NM_003416.4

p.Q114K

c.340C>A

NM_003416.4

p.D127_S128insFs

c.381_382insA

NM_003416.4

p.A167T

c.499G>A

NM_003416.4

p.G188R

c.562G>A

NM_003416.4

p.G188R

c.562G>C

NM_003416.4

p.E192K

c.574G>A