Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 54 variants

NM_001393339.1

p.R112_S113Splc

c.336+1G>A

NM_001393339.1

p.T97M

c.290C>T

NM_001393339.1

p.K153*

c.457A>T

NM_001393339.1

p.P33S

c.97C>T

NM_001393339.1

p.R45W

c.133C>T

NM_001393339.1

p.D165E

c.495C>G

NM_001393339.1

p.D165E

c.495C>A

NM_001393339.1

p.E2insFs

c.5_6insGT

NM_001393339.1

p.Y3insFs

c.7_8insGT

NM_001393339.1

p.L4H

c.11T>A

NM_001393339.1

p.S5_A6insGT

c.13_17ins6

NM_001393339.1

p.L7V

c.19C>G