Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_002288.6

p.R76*

c.226C>T

NM_002288.6

p.F115Y

c.344T>A

NM_002288.6

p.V12Splc

c.35-2A>C

NM_002288.6

p.S123T

c.368G>C

NM_002288.6

p.L9P

c.26T>C

NM_002288.6

p.A16V

c.47C>T

NM_002288.6

p.P29S

c.85C>T

NM_002288.6

p.I31V

c.91A>G

NM_002288.6

p.I88F

c.262A>T

NM_002288.6

p.R100C

c.298C>T

NM_002288.6

p.P106L

c.317C>T

NM_002288.6

p.P107delFs

c.321delT