Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001365371.2

p.S52L

c.155C>T

NM_001365371.2

p.Q188H

c.564A>T

NM_001365371.2

p.Q188H

c.564A>C

NM_001365371.2

p.K206*

c.616A>T

NM_001365371.2

p.E243_E248del0

c.727_744del18

NM_001365371.2

p.K269E

c.805A>G

NM_001365371.2

p.R342Q

c.1025G>A

NM_001365371.2

p.I369M

c.1107A>G

NM_001365371.2

p.D558G

c.1673A>G

NM_001365371.2

p.A594T

c.1780G>A