Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 35 variants

NM_030966.2

p.Q41E

c.121C>G

NM_030966.2

p.C40ins10

c.119_120ins30

NM_030966.2

p.C24S

c.70T>A

NM_030966.2

p.C24S

c.71G>C

NM_030966.2

p.C34ins10

c.100_101ins30

NM_030966.2

p.C40delins

c.120delinsTGAGACCAGCTGCTGCCAGCCAAGCTGCTGC

NM_030966.2

p.S99G

c.295A>G

NM_030966.2

p.A141S

c.421G>T

NM_030966.2

p.T16I

c.47C>T

NM_030966.2

p.C34S

c.100T>A

NM_030966.2

p.C34S

c.101G>C

NM_030966.2

p.M1insFs

c.1dupA