Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

NM_145307.4

p.H462R

c.1385A>G

NM_145307.4

p.A288T

c.862G>A

NM_145307.4

p.E327_A328del0

c.979_984del6

NM_145307.4

p.Y318insFs

c.952dupT

NM_145307.4

p.Y318fs

c.952_953fs

NM_145307.4

p.I450delFs

c.1348delT

NM_145307.4

p.M59L

c.175A>C

NM_145307.4

p.T96T

c.288A>T

NM_145307.4

p.I109_P110delFs

c.327_328delGT

NM_145307.4

p.C310Y

c.929G>A

NM_145307.4

p.I450fs

c.1348_1349fs

NM_145307.4

p.Q20_D21Splc

c.60+188C>G