Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_183373.4

p.Q184H

c.552G>T

NM_183373.4

p.Q184H

c.552G>C

NM_183373.4

p.E203Q

c.607G>C

NM_183373.4

p.L193Splc

c.578+5G>A

NM_183373.4

p.T43T

c.129G>T

NM_183373.4

p.D74Y

c.220G>T

NM_183373.4

p.K116_Y117Splc

c.349-1G>T

NM_183373.4

p.N161S

c.482A>G

NM_183373.4

p.G186C

c.556G>T

NM_183373.4

p.L193V

c.577T>G

NM_183373.4

p.L193V

c.577T>G

NM_183373.4

p.F194S

c.581T>C