Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 66 variants

NM_001258311.2

p.A200T

c.598G>A

NM_001258311.2

p.E17*

c.49G>T

NM_001258311.2

p.Y46*

c.138C>G

NM_001258311.2

p.Y46*

c.138C>A

NM_001258311.2

p.A72fs

c.214_215fs

NM_001258311.2

p.A72delFs

c.214delC

NM_001258311.2

p.F170fs

c.508_509fs

NM_001258311.2

p.F170delFs

c.509delA

NM_001258311.2

p.T226M

c.677C>T

NM_001258311.2

p.I481fs

c.1441_1442fs

NM_001258311.2

p.I481_H497delFs

c.1442_1490del49

NM_001258311.2

p.L15M

c.43C>A