Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_001165967.2

p.R25W

c.73C>T

NM_001165967.2

p.I58V

c.172A>G

NM_001165967.2

p.V2A

c.5T>C

NM_001165967.2

p.K134_R137insFs

c.400_409dup10

NM_001165967.2

p.N29S

c.86A>G

NM_001165967.2

p.R42delFs

c.126delC

NM_001165967.2

p.D142Y

c.424G>T

NM_001165967.2

p.K14_M15Splc

c.43-9T>A

NM_001165967.2

p.P18T

c.52C>A

NM_001165967.2

p.L19insFs

c.55_56insT

NM_001165967.2

p.L19insFs

c.55_56insC

NM_001165967.2

p.L37L

c.111G>A