Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 111 variants

NM_006545.5

p.R34*

c.100C>T

NM_006545.5

p.R295*

c.883C>T

NM_006545.5

p.R78C

c.232C>T

NM_006545.5

p.L105P

c.314T>C

NM_006545.5

p.T110S

c.328A>T

NM_006545.5

p.T110S

c.329C>G

NM_006545.5

p.D214H

c.640G>C

NM_006545.5

p.I23fs

c.67_68fs

NM_006545.5

p.A97T

c.289G>A

NM_006545.5

p.L228Splc

c.683+1G>C

NM_006545.5

p.C378W

c.1134C>G

NM_006545.5

p.I23delFs

c.68_69delGA