Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001368809.2

p.K118Splc

c.353+1G>A

Surrounding Variants

NM_001368809.2

p.R111delFs

c.333delG

NM_001368809.2

p.E110*

c.328G>T

NM_001368809.2

p.E110_R111del1

c.329_331delAGC

NM_001368809.2

p.E110_R111del2

c.328_332del6

NM_001368809.2

p.R106W

c.316C>T

NM_001368809.2

p.P94L

c.281C>T

NM_001368809.2

p.E85V

c.254A>T

NM_001368809.2

p.E83*

c.247G>T

NM_001368809.2

p.A82T

c.244G>A

NM_001368809.2

p.L81V

c.241C>G

NM_001368809.2

p.D66_G67del1

c.197_199delATG

NM_001368809.2

p.D66_G67del2

c.196_200del6