Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

NM_001323087.2

p.M493V

c.1477A>G

NM_001323087.2

p.E129K

c.385G>A

NM_001323087.2

p.R187C

c.559C>T

NM_001323087.2

p.E26K

c.76G>A

NM_001323087.2

p.A30ins1

c.88_89insGAT

NM_001323087.2

p.A30fs

c.88_89fs

NM_001323087.2

p.A30insFs

c.89_90ins7

NM_001323087.2

p.Q36Q

c.108G>A

NM_001323087.2

p.R61C

c.181C>T

NM_001323087.2

p.E81K

c.241G>A

NM_001323087.2

p.Q88_A89insGAT

c.262_266ins9

NM_001323087.2

p.A89_V90ins7

c.265_269ins21