Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_005226.4

p.R243Q

c.728G>A

NM_005226.4

p.R153H

c.458G>A

NM_005226.4

p.G159W

c.475G>T

NM_005226.4

p.T3insFs

c.7dupA

NM_005226.4

p.P7L

c.20C>T

NM_005226.4

p.R13fs

c.37_38fs

NM_005226.4

p.R13delFs

c.38delG

NM_005226.4

p.V25V

c.75G>A

NM_005226.4

p.C50*

c.150C>A

NM_005226.4

p.N57I

c.170A>T

NM_005226.4

p.H71L

c.212A>T

NM_005226.4

p.G89S

c.265G>A