Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001145132.2

p.R91Q

c.272G>A

NM_001145132.2

p.T17K

c.50C>A

NM_001145132.2

p.Y37F

c.110A>T

NM_001145132.2

p.R45L

c.134G>T

NM_001145132.2

p.S71Splc

c.213-1G>T

NM_001145132.2

p.S90F

c.269C>T

NM_001145132.2

p.I93I

c.279T>A

NM_001145132.2

p.T100A

c.298A>G

NM_001145132.2

p.R102*

c.304C>T

NM_001145132.2

p.A110T

c.328G>A

NM_001145132.2

p.W140R

c.418T>A

NM_001145132.2

p.W140R

c.418T>C