Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 55 variants

NM_001039580.2

p.R177W

c.529C>T

NM_001039580.2

p.K88N

c.264A>T

NM_001039580.2

p.A264T

c.790G>A

NM_001039580.2

p.D293V

c.878A>T

NM_001039580.2

p.S15G

c.43A>G

NM_001039580.2

p.Q25_D26Splc

c.75+18G>A

NM_001039580.2

p.E83V

c.248A>T

NM_001039580.2

p.S87P

c.259T>C

NM_001039580.2

p.L92V

c.274T>G

NM_001039580.2

p.S97P

c.289T>C

NM_001039580.2

p.G99S

c.295G>A

NM_001039580.2

p.E140fs

c.418_419fs