Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_003385.5

p.L168R

c.503T>G

NM_003385.5

p.G2A

c.5G>C

NM_003385.5

p.E47fs

c.139_140fs

NM_003385.5

p.D73A

c.218A>C

NM_003385.5

p.G76_D77delins

c.228_229delinsAC

NM_003385.5

p.D77H

c.229G>C

NM_003385.5

p.D109A

c.326A>C

NM_003385.5

p.Q149ins1

c.446_447insGAA

NM_003385.5

p.Q149ins1

c.446_447insAAC

NM_003385.5

p.D152E

c.456C>A

NM_003385.5

p.D152E

c.456C>G

NM_003385.5

p.M158V

c.472A>G