Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 56 variants

NM_001080516.2

p.N238insFs

c.714dupT

NM_001080516.2

p.Q74E

c.220C>G

NM_001080516.2

p.L181F

c.543A>T

NM_001080516.2

p.L181F

c.543A>C

NM_001080516.2

p.K22R

c.65A>G

NM_001080516.2

p.S52N

c.155G>A

NM_001080516.2

p.P78L

c.233C>T

NM_001080516.2

p.G98D

c.293G>A

NM_001080516.2

p.E5Q

c.13G>C

NM_001080516.2

p.R17Q

c.50G>A

NM_001080516.2

p.R30*

c.88C>T

NM_001080516.2

p.E48K

c.142G>A