Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001123363.4

p.R2insFs

c.4dupA

NM_001123363.4

p.P20_S21ins1

c.60_61insAGC

NM_001123363.4

p.P60_K61insAGC

c.178_182ins9

NM_001123363.4

p.R364H

c.1091G>A

NM_001123363.4

p.I407N

c.1220T>A

NM_001123363.4

p.K530*

c.1588A>T

NM_001123363.4

p.G587R

c.1759G>C

NM_001123363.4

p.E798G

c.2393A>G

NM_001123363.4

p.S874*

c.2621C>G

NM_001123363.4

p.S874*

c.2621C>A

NM_001123363.4

p.S874delFs

c.2621delG

NM_001123363.4

p.P1044R

c.3131C>G