Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001395503.1

p.G47V

c.140G>T

NM_001395503.1

p.A49P

c.145G>C

NM_001395503.1

p.G64Splc

c.191-37C>A

NM_001395503.1

p.P74S

c.220C>T

NM_001395503.1

p.R94C

c.280C>T

NM_001395503.1

p.L104V

c.310C>G

NM_001395503.1

p.S122R

c.364A>C

NM_001395503.1

p.S122R

c.366C>A

NM_001395503.1

p.S122R

c.366C>G

NM_001395503.1

p.Y132insFs

c.396dupC