Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_001382309.1

p.R114*

c.340C>T

NM_001382309.1

p.S14delFs

c.40_41delCT

NM_001382309.1

p.A20T

c.58G>A

NM_001382309.1

p.V28V

c.84C>A

NM_001382309.1

p.L33M

c.97T>A

NM_001382309.1

p.R41fs

c.121_122fs

NM_001382309.1

p.H40_R41del2

c.118_122del6

NM_001382309.1

p.R41_K44delFs

c.123_132del10

NM_001382309.1

p.G46C

c.136G>T

NM_001382309.1

p.P67fs

c.199_200fs

NM_001382309.1

p.P67delFs

c.200delG

NM_001382309.1

p.I71T

c.212T>C