Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 130 variants

NM_020928.2

p.R1163W

c.3487C>T

NM_020928.2

p.R913*

c.2737C>T

NM_020928.2

p.R577C

c.1729C>T

NM_020928.2

p.R717Q

c.2150G>A

NM_020928.2

p.P1137P

c.3411C>A

NM_020928.2

p.G19_G20del0

c.55_60del6

NM_020928.2

p.A164A

c.492G>C

NM_020928.2

p.P635_V636delFs

c.1903_1907del5

NM_020928.2

p.E713*

c.2137G>T

NM_020928.2

p.T1022M

c.3065C>T

NM_020928.2

p.M1T

c.2T>C

NM_020928.2

p.E3E

c.9G>A