Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

NM_001363644.2

p.R26H

c.77G>A

NM_001363644.2

p.E78del1

c.232_233delGAA

NM_001363644.2

p.D80fs

c.238_239fs

NM_001363644.2

p.P100insFs

c.299dupC

NM_001363644.2

p.V116insFs

c.347dupT

NM_001363644.2

p.L117fs

c.349_350fs

NM_001363644.2

p.T120T

c.360A>G

NM_001363644.2

p.G123G

c.369G>T

NM_001363644.2

p.R129C

c.385C>T

NM_001363644.2

p.M145I

c.435G>A

NM_001363644.2

p.M145I

c.435G>C

NM_001363644.2

p.M145I

c.435G>T