Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 100 variants

NM_001330724.2

p.M1T

c.2T>C

NM_001330724.2

p.K33R

c.98A>G

NM_001330724.2

p.D41A

c.122A>C

NM_001330724.2

p.D184_V185insFs

c.552_553ins4

NM_001330724.2

p.G189C

c.565G>T

NM_001330724.2

p.Q305*

c.913C>T

NM_001330724.2

p.Q340_D341Splc

c.1021-1G>C

NM_001330724.2

p.T446I

c.1337C>T

NM_001330724.2

p.G11R

c.31G>C

NM_001330724.2

p.G11R

c.31G>A

NM_001330724.2

p.L63F

c.189G>C

NM_001330724.2

p.C117delFs

c.349delA