Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 13 variants

NM_030946.2

p.T32T

c.96A>T

NM_030946.2

p.P165A

c.493C>G

NM_030946.2

p.V49M

c.145G>A

NM_030946.2

p.R52H

c.155G>A

NM_030946.2

p.Y59fs

c.175_176fs

NM_030946.2

p.S91Y

c.272C>A

NM_030946.2

p.A111V

c.332C>T

NM_030946.2

p.S188C

c.563C>G

NM_030946.2

p.P227fs

c.679_680fs

NM_030946.2

p.V235V

c.705C>T

NM_030946.2

p.S266L

c.797C>T

NM_030946.2

p.R291Q

c.872G>A