Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

NM_001079673.2

p.D396N

c.1186G>A

NM_001079673.2

p.P73S

c.217C>T

NM_001079673.2

p.P78S

c.232C>T

NM_001079673.2

p.A82P

c.244G>C

NM_001079673.2

p.R92Q

c.275G>A

NM_001079673.2

p.R134C

c.400C>T

NM_001079673.2

p.V140M

c.418G>A

NM_001079673.2

p.G144delins

c.430_431delinsTT

NM_001079673.2

p.Y154C

c.461A>G

NM_001079673.2

p.S156F

c.467C>T

NM_001079673.2

p.F174V

c.520T>G

NM_001079673.2

p.R178*

c.532C>T