Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_001322209.2

p.A46T

c.136G>A

NM_001322209.2

p.E15Q

c.43G>C

NM_001322209.2

p.H176H

c.528C>T

NM_001322209.2

p.F310fs

c.928_929fs

NM_001322209.2

p.L4F

c.12A>T

NM_001322209.2

p.L11V

c.31T>G

NM_001322209.2

p.L11Fs

c.31delinsTGFs

NM_001322209.2

p.S13L

c.38C>T

NM_001322209.2

p.R19I

c.56G>T

NM_001322209.2

p.C63S

c.187T>A

NM_001322209.2

p.C63S

c.188G>C

NM_001322209.2

p.R123*

c.367C>T