Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 22 variants

NM_021268.2

p.I184R

c.551T>G

NM_021268.2

p.G45R

c.133G>C

NM_021268.2

p.G45R

c.133G>A

NM_021268.2

p.H57_D58insFs

c.171_172insA

NM_021268.2

p.A10T

c.28G>A

NM_021268.2

p.D55V

c.164A>T

NM_021268.2

p.H57fs

c.169_170fs

NM_021268.2

p.D67H

c.199G>C

NM_021268.2

p.I77N

c.230T>A

NM_021268.2

p.S97F

c.290C>T

NM_021268.2

p.W100*

c.299G>A

NM_021268.2

p.W100*

c.300G>A