Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

NM_003342.5

p.C90S

c.268T>A

NM_003342.5

p.C90S

c.269G>C

NM_003342.5

p.M1K

c.2T>A

NM_003342.5

p.E3A

c.8A>C

NM_003342.5

p.E16fs

c.46_47fs

NM_003342.5

p.W38R

c.112T>A

NM_003342.5

p.A57T

c.169G>A

NM_003342.5

p.P66L

c.197C>T

NM_003342.5

p.L67F

c.199C>T

NM_003342.5

p.R68*

c.202C>T

NM_003342.5

p.D84A

c.251A>C

NM_003342.5

p.H95R

c.284A>G