Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001300942.2

p.C209*

c.627T>A

Surrounding Variants

NM_001300942.2

p.S210L

c.629C>T

NM_001300942.2

p.E212K

c.634G>A

NM_001300942.2

p.S206N

c.617G>A

NM_020193.5

p.S191Splc

c.572-43A>G

NM_001300942.2

p.L232L

c.694C>T

NM_001300942.2

p.V242delins

c.726delinsCCAT

NM_001300942.2

p.T247delFs

c.739_740delAC

NM_001300942.2

p.T247fs

c.739_740fs

NM_001300942.2

p.S262_I263insFs

c.786_787insT

NM_001300942.2

p.L267_P268insFs

c.801_802ins4

NM_001300942.2

p.P268_P269insFs

c.804_805ins4

NM_020193.5

p.P258P

c.774T>C