Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 765 variants

NM_000517.6

p.*143Q

c.427T>C

NM_000517.6

p.L126P

c.377T>C

NM_000517.6

p.H123Q

c.369C>G

NM_000517.6

p.*143Y

c.429A>T

NM_000517.6

p.G60D

c.179G>A

NM_000517.6

p.R32G

c.94A>G

NM_000517.6

p.E31G

c.92A>G

NM_000517.6

p.R32Splc

c.96-1G>A

NM_000517.6

p.R32Splc

c.96-1G>T

NM_000517.6

p.E31del1

c.91_93delGAG

NM_000517.6

p.E31Q

c.91G>C

NM_000517.6

p.M1T

c.2T>C