Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

NM_001271977.2

p.K49R

c.146A>G

NM_001271977.2

p.D58E

c.174T>A

NM_001271977.2

p.T174A

c.520A>G

NM_001271977.2

p.R139Q

c.416G>A

NM_001271977.2

p.G160W

c.478G>T

NM_001271977.2

p.Q10_H11Splc

c.30+766G>T

NM_001271977.2

p.L23F

c.67C>T

NM_001271977.2

p.G29C

c.85G>T

NM_001271977.2

p.L53_E54delFs

c.157_161del5

NM_001271977.2

p.S75T

c.224G>C

NM_001271977.2

p.G83D

c.248G>A

NM_001271977.2

p.I93I

c.279C>T