Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 28 variants

NM_001272071.2

p.R52*

c.154C>T

NM_001272071.2

p.Q36*

c.106C>T

NM_001272071.2

p.E76*

c.226G>T

NM_001272071.2

p.E142_D143Splc

c.426+1G>T

NM_001272071.2

p.S96_V97Splc

c.288+5G>A

NM_001272071.2

p.S96_V97Splc

c.289-1G>C

NM_001272071.2

p.Q123*

c.367C>T

NM_001272071.2

p.L34fs

c.100_101fs

NM_001272071.2

p.R32_L34insFs

c.96_100dup5

NM_001272071.2

p.Q73*

c.217C>T

NM_001272071.2

p.Q2*

c.4C>T

NM_001272071.2

p.R60Splc

c.179+2T>C