Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_016018.5

p.G731Splc

c.2191+33A>G

Surrounding Variants

NM_016018.5

p.Y724delFs

c.2172delT

NM_016018.5

p.D676N

c.2026G>A

NM_016018.5

p.M750delFs

c.2250delG

NM_016018.5

p.E758K

c.2272G>A

NM_016018.5

p.L785V

c.2353C>G

NM_016018.5

p.H786H

c.2358C>T

NM_016018.5

p.Q789*

c.2365C>T

NM_016018.5

p.D814Y

c.2440G>T

NM_016018.5

p.I818V

c.2452A>G

NM_016018.5

p.G821_E823delFs

c.2461_2467del7

NM_016018.5

p.G821fs

c.2461_2462fs

NM_016018.5

p.I857V

c.2569A>G