Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_031492.4

p.M1K

c.2T>A

NM_031492.4

p.Y37Y

c.111C>T

NM_031492.4

p.R53H

c.158G>A

NM_031492.4

p.K59fs

c.175_176fs

NM_031492.4

p.K59delFs

c.176_177delCT

NM_031492.4

p.L94H

c.281T>A

NM_031492.4

p.R164L

c.491G>T

NM_031492.4

p.P176_V177del2

c.526_530del6

NM_031492.4

p.T180K

c.539C>A

NM_031492.4

p.R198Q

c.593G>A

NM_031492.4

p.R223*

c.667C>T

NM_031492.4

p.Y229H

c.685T>C