Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 177 variants

NM_001302769.2

p.L165P

c.494T>C

NM_001302769.2

p.R98W

c.292C>T

NM_001302769.2

p.R192K

c.575G>A

NM_001302769.2

p.I122T

c.365T>C

NM_001302769.2

p.D199_M200delFs

c.597_598delTA

NM_001302769.2

p.R244Q

c.731G>A

NM_001302769.2

p.K317R

c.950A>G

NM_001302769.2

p.T491K

c.1472C>A

NM_001302769.2

p.A507T

c.1519G>A

NM_001302769.2

p.N623D

c.1867A>G

NM_001302769.2

p.D671G

c.2012A>G

NM_001302769.2

p.V694fs

c.2080_2081fs