Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

NM_001080454.2

p.S201I

c.602G>T

NM_001080454.2

p.Q357*

c.1069C>T

NM_001080454.2

p.P49S

c.145C>T

NM_001080454.2

p.R156Q

c.467G>A

NM_001080454.2

p.A298fs

c.892_893fs

NM_001080454.2

p.T373M

c.1118C>T

NM_001080454.2

p.R569C

c.1705C>T

NM_001080454.2

p.R6C

c.16C>T

NM_001080454.2

p.R6fs

c.16_17fs

NM_001080454.2

p.R6H

c.17G>A

NM_001080454.2

p.I13F

c.37A>T

NM_001080454.2

p.R21W

c.61C>T