Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

NM_001146339.2

p.T226M

c.677C>T

NM_001146339.2

p.A20S

c.58G>T

NM_001146339.2

p.A28Splc

c.82+77G>C

NM_001146339.2

p.E32K

c.94G>A

NM_001146339.2

p.R73L

c.218G>T

NM_001146339.2

p.S99_T100Splc

c.298-51G>A

NM_001146339.2

p.R118Q

c.353G>A

NM_001146339.2

p.Y125Y

c.375C>T

NM_001146339.2

p.G170S

c.508G>A

NM_001146339.2

p.R172C

c.514C>T

NM_001146339.2

p.H174H

c.522C>T

NM_001146339.2

p.R197H

c.590G>A