Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_005251.3

p.Q238*

c.712C>T

Surrounding Variants

NM_005251.3

p.S235I

c.704G>T

NM_005251.3

p.R242C

c.724C>T

NM_005251.3

p.R242_S243Fs

c.724_727delinsAGFs

NM_005251.3

p.S232N

c.695G>A

NM_005251.3

p.A245delFs

c.733delG

NM_005251.3

p.A245fs

c.733_734fs

NM_005251.3

p.S246S

c.738C>T

NM_005251.3

p.T247_P248insFs

c.741_742insGG

NM_005251.3

p.P248insFs

c.743dupC

NM_005251.3

p.P248_S251del0

c.742_753del12

NM_005251.3

p.V228M

c.682G>A

NM_005251.3

p.S251_P252del2

c.751_755del6