Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 21 variants

NM_001128203.2

p.R95W

c.283C>T

NM_001128203.2

p.C113S

c.337T>A

NM_001128203.2

p.C113S

c.338G>C

NM_001128203.2

p.Q129_V130Splc

c.388-1G>C

NM_001128203.2

p.P4R

c.11C>G

NM_001128203.2

p.I14F

c.40A>T

NM_001128203.2

p.P19H

c.56C>A

NM_001128203.2

p.H23Q

c.69C>G

NM_001128203.2

p.H23Q

c.69C>A

NM_001128203.2

p.H35Q

c.105T>G

NM_001128203.2

p.H35Q

c.105T>A

NM_001128203.2

p.P38H

c.113C>A