Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 310 variants

NM_001079802.2

p.R47*

c.139C>T

NM_001079802.2

p.R179T

c.536G>C

NM_001079802.2

p.R307Q

c.920G>A

NM_001079802.2

p.R216Splc

c.647+2084G>T

NM_001079802.2

p.K389insFs

c.1167dupA

NM_001079802.2

p.Q358P

c.1073A>C

NM_001079802.2

p.Y371C

c.1112A>G

NM_001079802.2

p.R307*

c.919C>T

NM_001079802.2

p.Q116*

c.346C>T

NM_001079802.2

p.G125S

c.373G>A

NM_001079802.2

p.R203Q

c.608G>A

NM_001079802.2

p.F390fs

c.1168_1169fs