Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

NM_001372052.1

p.I516L

c.1546A>C

NM_001372052.1

p.M1insFs

c.1_2insGT

NM_001372052.1

p.A2V

c.5C>T

NM_001372052.1

p.G8C

c.22G>T

NM_001372052.1

p.E9D

c.27A>T

NM_001372052.1

p.E9D

c.27A>C

NM_001372052.1

p.V11I

c.31G>A

NM_001372052.1

p.H12R

c.35A>G

NM_001372052.1

p.L16F

c.46C>T

NM_001372052.1

p.Q23*

c.67C>T

NM_001372052.1

p.G31A

c.92G>C

NM_001372052.1

p.P40P

c.120G>A