Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 41 variants

NM_033388.2

p.R220W

c.658C>T

NM_033388.2

p.V6insFs

c.17_18insC

NM_033388.2

p.R13R

c.39C>T

NM_033388.2

p.H17_I18insC

c.49_53ins3

NM_033388.2

p.P38S

c.112C>T

NM_033388.2

p.L43F

c.127C>T

NM_033388.2

p.L44fs

c.130_131fs

NM_033388.2

p.N62N

c.186C>T

NM_033388.2

p.P66L

c.197C>T

NM_033388.2

p.G71D

c.212G>A

NM_033388.2

p.S80L

c.239C>T

NM_033388.2

p.E98del1

c.292_293delGAG