Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 64 variants

NM_001378024.1

p.Y1222delFs

c.3666delG

NM_001378024.1

p.D1466_A1468delFs

c.4398_4404del7

NM_001378024.1

p.S47C

c.140C>G

NM_001378024.1

p.R58I

c.173G>T

NM_001378024.1

p.R58K

c.173G>A

NM_001378024.1

p.R63Q

c.188G>A

NM_001378024.1

p.R65Q

c.194G>A

NM_001378024.1

p.G78D

c.233G>A

NM_001378024.1

p.K105R

c.314A>G

NM_001378024.1

p.I147L

c.439A>C

NM_001378024.1

p.Q148_L149Splc

c.444+4831T>C

NM_001378024.1

p.E153Q

c.457G>C