Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_138481.2

p.V330insFs

c.988_989ins8

NM_138481.2

p.E2V

c.5A>T

NM_138481.2

p.A23fs

c.67_68fs

NM_138481.2

p.L22_A25delFs

c.66_75del10

NM_138481.2

p.A36del1

c.106_107delGGC

NM_138481.2

p.P57T

c.169C>A

NM_138481.2

p.N72H

c.214A>C

NM_138481.2

p.A81T

c.241G>A

NM_138481.2

p.R94P

c.281G>C

NM_138481.2

p.R107C

c.319C>T

NM_138481.2

p.G110D

c.329G>A

NM_138481.2

p.Q127_E128delins

c.381_382delinsTT