Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 39 variants

NM_001099338.2

p.A160T

c.478G>A

NM_001099338.2

p.G545S

c.1633G>A

NM_001099338.2

p.R875H

c.2624G>A

NM_001099338.2

p.P280del1

c.838_840delCCA

NM_001099338.2

p.T566I

c.1697C>T

NM_001099338.2

p.M1_E2insFs

c.3_4insA

NM_001099338.2

p.N76I

c.227A>T

NM_001099338.2

p.S83fs

c.247_248fs

NM_001099338.2

p.E94delFs

c.280delG

NM_001099338.2

p.P134S

c.400C>T

NM_001099338.2

p.L165P

c.494T>C

NM_001099338.2

p.A227T

c.679G>A