Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

NM_017619.4

p.P474T

c.1420C>A

NM_017619.4

p.R502*

c.1504C>T

NM_017619.4

p.G148A

c.443G>C

NM_017619.4

p.Q87*

c.259C>T

NM_017619.4

p.E116delFs

c.347delA

NM_017619.4

p.E116fs

c.346_347fs

NM_017619.4

p.R120insFs

c.358dupA

NM_017619.4

p.R205*

c.613C>T

NM_017619.4

p.Y423F

c.1268A>T

NM_017619.4

p.Y443C

c.1328A>G

NM_017619.4

p.I457T

c.1370T>C

NM_017619.4

p.K466Q

c.1396A>C