Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

NM_001040709.2

p.E99G

c.296A>G

NM_001040709.2

p.N213S

c.638A>G

NM_001040709.2

p.R65H

c.194G>A

NM_001040709.2

p.Y91F

c.272A>T

NM_001040709.2

p.A205V

c.614C>T

NM_001040709.2

p.G245_D247ins1

c.734_739dup6

NM_001040709.2

p.Q18_V19Splc

c.54+19G>T

NM_001040709.2

p.R27C

c.79C>T

NM_001040709.2

p.R29Q

c.86G>A

NM_001040709.2

p.L35M

c.103C>A

NM_001040709.2

p.K39*

c.115A>T

NM_001040709.2

p.A49T

c.145G>A