Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 60 variants

NM_018989.2

p.G348D

c.1043G>A

NM_018989.2

p.R455H

c.1364G>A

NM_018989.2

p.K814delFs

c.2440delA

NM_018989.2

p.L13V

c.37C>G

NM_018989.2

p.P79L

c.236C>T

NM_018989.2

p.K814fs

c.2440_2441fs

NM_018989.2

p.K816fs

c.2446_2447fs

NM_018989.2

p.A8T

c.22G>A

NM_018989.2

p.A14V

c.41C>T

NM_018989.2

p.D39D

c.117C>T

NM_018989.2

p.Q52*

c.154C>T

NM_018989.2

p.E60Splc

c.179-6C>T