Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001286680.2

p.T15A

c.43A>G

NM_001286680.2

p.P89S

c.265C>T

NM_001286680.2

p.M90_V91Splc

c.270+6C>T

NM_001286680.2

p.R107Q

c.320G>A

NM_001286680.2

p.P169S

c.505C>T

NM_001286680.2

p.P169L

c.506C>T

NM_001286680.2

p.K171T

c.512A>C

NM_001286680.2

p.A173E

c.518C>A

NM_001286680.2

p.K180insFs

c.539dupA

NM_001286680.2

p.L181fs

c.541_542fs

NM_001286680.2

p.I188M

c.564A>G