Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 30 variants

NM_030797.4

p.R166C

c.496C>T

NM_030797.4

p.E210_N211Splc

c.631-1G>A

NM_030797.4

p.E11K

c.31G>A

NM_030797.4

p.G30V

c.89G>T

NM_030797.4

p.V41I

c.121G>A

NM_030797.4

p.R88M

c.263G>T

NM_030797.4

p.R98K

c.293G>A

NM_030797.4

p.E100Splc

c.299-1G>A

NM_030797.4

p.T116K

c.347C>A

NM_030797.4

p.Q125K

c.373C>A

NM_030797.4

p.E130fs

c.388_389fs

NM_030797.4

p.T138fs

c.412_413fs