Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 16 variants

NM_001365310.2

p.Y130*

c.390C>A

NM_001365310.2

p.Y130*

c.390C>G

NM_001365310.2

p.E47del1

c.139_140delGAG

NM_001365310.2

p.D109_D111del3

c.325_332del9

NM_001365310.2

p.E46_G48del0

c.137_142del6

NM_001365310.2

p.E37_E40del0

c.109_120del12

NM_001365310.2

p.E37_E41del0

c.109_123del15

NM_001365310.2

p.S63*

c.188C>A

NM_001365310.2

p.S63*

c.188C>G

NM_001365310.2

p.R103H

c.308G>A

NM_001365310.2

p.D109_R120del12

c.325_359del36

NM_001365310.2

p.D109_R123del15

c.325_368del45