Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 97 variants

NM_001330723.2

p.Y170*

c.510C>A

NM_001330723.2

p.Y170*

c.510C>G

NM_001330723.2

p.V323M

c.967G>A

NM_001330723.2

p.C432Y

c.1295G>A

NM_001330723.2

p.E515_R516del2

c.1543_1547del6

NM_001330723.2

p.H172delFs

c.515_516delAT

NM_001330723.2

p.H172fs

c.514_515fs

NM_001330723.2

p.R198W

c.592C>T

NM_001330723.2

p.M258V

c.772A>G

NM_001330723.2

p.F261insFs

c.782dupT

NM_001330723.2

p.L262fs

c.784_785fs

NM_001330723.2

p.S325C

c.973A>T