Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001365892.2

p.R313*

c.937C>T

NM_001365892.2

p.Q55*

c.163C>T

NM_001365892.2

p.G110R

c.328G>C

NM_001365892.2

p.G110R

c.328G>A

NM_001365892.2

p.P116H

c.347C>A

NM_001365892.2

p.S124S

c.372A>G

NM_001365892.2

p.Q161*

c.481C>T

NM_001365892.2

p.R251H

c.752G>A

NM_001365892.2

p.K325fs

c.973_974fs

NM_001365892.2

p.W341Splc

c.1022+1G>A

NM_001365892.2

p.R378C

c.1132C>T