Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 24 variants

NM_001145018.3

p.P200fs

c.598_599fs

NM_001145018.3

p.R101H

c.302G>A

NM_001145018.3

p.P200delFs

c.599delG

NM_001145018.3

p.K4R

c.11A>G

NM_001145018.3

p.Q15delFs

c.44delT

NM_001145018.3

p.K17E

c.49A>G

NM_001145018.3

p.R42*

c.124C>T

NM_001145018.3

p.H44delFs

c.131_132delGT

NM_001145018.3

p.H44del1

c.130_131delGTG

NM_001145018.3

p.R77*

c.229C>T

NM_001145018.3

p.R77Q

c.230G>A

NM_001145018.3

p.A85T

c.253G>A