Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_001003692.2

p.R58S

c.174G>T

NM_001003692.2

p.R58S

c.174G>C

NM_001003692.2

p.C10Y

c.29G>A

NM_001003692.2

p.D11N

c.31G>A

NM_001003692.2

p.D16G

c.47A>G

NM_001003692.2

p.R21C

c.61C>T

NM_001003692.2

p.R21L

c.62G>T

NM_001003692.2

p.G64Splc

c.190+3A>T

NM_001003692.2

p.E104G

c.311A>G

NM_001003692.2

p.R133K

c.398G>A

NM_001003692.2

p.R154G

c.460C>G

NM_001003692.2

p.R154fs

c.460_461fs