Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 59 variants

NM_001351695.2

p.Q318*

c.952C>T

NM_001351695.2

p.D276A

c.827A>C

NM_001351695.2

p.C4*

c.12T>A

NM_001351695.2

p.T5R

c.14C>G

NM_001351695.2

p.Q8Q

c.24G>A

NM_001351695.2

p.Q19*

c.55C>T

NM_001351695.2

p.V42I

c.124G>A

NM_001351695.2

p.M44K

c.131T>A

NM_020748.4

p.A53T

c.157G>A

NM_001351695.2

p.L46insFs

c.137_138insT

NM_001351695.2

p.L62insFs

c.185_186insA

NM_001351695.2

p.A78T

c.232G>A