Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 17 variants

NM_001172679.2

p.R52Q

c.155G>A

NM_001172679.2

p.R350H

c.1049G>A

NM_001172679.2

p.A32insFs

c.96dupC

NM_001172679.2

p.V33fs

c.97_98fs

NM_001172679.2

p.S135C

c.404C>G

NM_001172679.2

p.A163A

c.489C>T

NM_001172679.2

p.H164H

c.492C>T

NM_001172679.2

p.G198D

c.593G>A

NM_001172679.2

p.P285L

c.854C>T

NM_001172679.2

p.G310S

c.928G>A

NM_001172679.2

p.A331V

c.992C>T

NM_001172679.2

p.Y342*

c.1026C>G