Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 14 variants

NM_001353258.2

p.G175R

c.523G>C

NM_001353258.2

p.G175R

c.523G>A

NM_001353258.2

p.M1K

c.2T>A

NM_001353258.2

p.R64*

c.190C>T

NM_001353258.2

p.E65Q

c.193G>C

NM_001353258.2

p.A66V

c.197C>T

NM_001353258.2

p.P70A

c.208C>G

NM_001353258.2

p.Y94C

c.281A>G

NM_001353258.2

p.S113G

c.337A>G

NM_001353258.2

p.P115insFs

c.344dupC

NM_001353258.2

p.R141W

c.421C>T

NM_001353258.2

p.R141Q

c.422G>A