Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 42 variants

NM_016229.5

p.L163W

c.488T>G

NM_016229.5

p.E15A

c.44A>C

NM_016229.5

p.G130E

c.389G>A

NM_016229.5

p.T145delFs

c.433delT

NM_016229.5

p.N209D

c.625A>G

NM_016229.5

p.*277K

c.829T>A

NM_016229.5

p.*277insFs

c.830_831ins4

NM_016229.5

p.P19S

c.55C>T

NM_016229.5

p.L20P

c.59T>C

NM_016229.5

p.H44N

c.130C>A

NM_016229.5

p.L48L

c.144T>C

NM_016229.5

p.A58V

c.173C>T