Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 36 variants

NM_001366781.1

p.R177H

c.530G>A

NM_001366781.1

p.R438C

c.1312C>T

NM_001366781.1

p.E12K

c.34G>A

NM_001366781.1

p.K40K

c.120G>A

NM_001366781.1

p.L90W

c.269T>G

NM_001366781.1

p.E114D

c.342A>T

NM_001366781.1

p.E114D

c.342A>C

NM_001366781.1

p.R118K

c.353G>A

NM_001366781.1

p.D121fs

c.361_362fs

NM_001366781.1

p.D121delFs

c.361_362delTC

NM_001366781.1

p.Q166H

c.498G>T

NM_001366781.1

p.Q166H

c.498G>C