Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 129 variants

NM_013351.2

p.H33Q

c.99C>A

NM_013351.2

p.H33Q

c.99C>G

NM_013351.2

p.E156_M157delins

c.466_471delinsAGTTTA

NM_013351.2

p.G130G

c.390A>G

NM_013351.2

p.R218H

c.653G>A

NM_013351.2

p.M1V

c.1A>G

NM_013351.2

p.M1K

c.2T>A

NM_013351.2

p.D46E

c.138C>A

NM_013351.2

p.P95delFs

c.284delC

NM_013351.2

p.I339V

c.1015A>G

NM_013351.2

p.E494K

c.1480G>A

NM_013351.2

p.R500K

c.1499G>A