Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

NM_001375547.2

p.M1V

c.1A>G

NM_001375547.2

p.K28N

c.84A>T

NM_001375547.2

p.L56F

c.166C>T

NM_001375547.2

p.A84T

c.250G>A

NM_001375547.2

p.Q104*

c.310C>T

NM_001375547.2

p.R113P

c.338G>C

NM_001375547.2

p.R115H

c.344G>A

NM_001375547.2

p.V121V

c.363G>C

NM_001375547.2

p.P140L

c.419C>T

NM_001375547.2

p.K165insFs

c.493_494ins22

NM_001375547.2

p.D196Y

c.586G>T

NM_001375547.2

p.G200V

c.599G>T