Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001269053.2

p.L10F

c.28C>T

NM_001269053.2

p.D28Y

c.82G>T

NM_001269053.2

p.Y40*

c.120T>G

NM_001269053.2

p.Y40*

c.120T>A

NM_001269053.2

p.E69*

c.205G>T

NM_001269053.2

p.Q85R

c.254A>G

NM_001269053.2

p.A87S

c.259G>T

NM_001269053.2

p.H131Y

c.391C>T

NM_001269053.2

p.L143V

c.427C>G

NM_001269053.2

p.I169insFs

c.507dupT