Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 48 variants

NM_032451.2

p.G456_L457insAAG

c.1366_1370ins9

NM_032451.2

p.A14T

c.40G>A

NM_032451.2

p.P152_E153ins1

c.456_457insGAG

NM_032451.2

p.V161F

c.481G>T

NM_032451.2

p.M297V

c.889A>G

NM_032451.2

p.R695*

c.2083C>T

NM_032451.2

p.R3W

c.7C>T

NM_032451.2

p.G5S

c.13G>A

NM_032451.2

p.P78R

c.233C>G

NM_032451.2

p.E82fs

c.244_245fs

NM_032451.2

p.Q99*

c.295C>T

NM_032451.2

p.Q99H

c.297G>C