Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

NM_001395463.1

p.R143H

c.428G>A

NM_001395463.1

p.H19Y

c.55C>T

NM_001395463.1

p.Y44Y

c.132C>T

NM_001395463.1

p.G80S

c.238G>A

NM_001395463.1

p.C48_G49delFs

c.144_145delCA

NM_001395463.1

p.R62Splc

c.185+88G>A

NM_001395463.1

p.R77G

c.229C>G

NM_001395463.1

p.G14Splc

c.40+1G>A

NM_001395463.1

p.G14G

c.42C>T

NM_001395463.1

p.A18S

c.52G>T

NM_001395463.1

p.A18T

c.52G>A

NM_001395463.1

p.A37T

c.109G>A