Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001012.2

p.M1T

c.2T>C

NM_001012.2

p.G2Splc

c.4+162G>A

NM_001012.2

p.G2Splc

c.5-169G>A

NM_001012.2

p.G51A

c.152G>C

NM_001012.2

p.A57A

c.171C>T

NM_001012.2

p.F65_S66insFs

c.195_196insG

NM_001012.2

p.I101I

c.303C>T

NM_001012.2

p.R110G

c.328C>G

NM_001012.2

p.A118V

c.353C>T

NM_001012.2

p.K124N

c.372G>C

NM_001012.2

p.K124N

c.372G>T

NM_001012.2

p.A127V

c.380C>T