Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_178331.2

p.A16V

c.47C>T

NM_178331.2

p.N111insFs

c.331_332ins5

NM_178331.2

p.R6*

c.16C>T

NM_178331.2

p.H17N

c.49C>A

NM_178331.2

p.L38_Q45del0

c.112_135del24

NM_178331.2

p.S40_Q42del0

c.120_125del6

NM_178331.2

p.D43A

c.128A>C

NM_178331.2

p.E102fs

c.304_305fs

NM_178331.2

p.E102insFs

c.305_306ins5

NM_178331.2

p.S109insFs

c.326_327ins5