Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

NM_001220500.2

p.R62W

c.184C>T

NM_001220500.2

p.D106D

c.318C>T

NM_001220500.2

p.T251P

c.751A>C

NM_001220500.2

p.M1insFs

c.2_3insT

NM_001220500.2

p.E8Splc

c.22+1G>T

NM_001220500.2

p.E8Splc

c.22+189C>A

NM_001220500.2

p.E8Splc

c.23-417T>C

NM_001220500.2

p.E8Splc

c.23-33T>C

NM_001220500.2

p.P13H

c.38C>A

NM_001220500.2

p.R16G

c.46C>G

NM_001220500.2

p.R20C

c.58C>T

NM_001220500.2

p.T22T

c.66T>C