Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001042646.3

p.E517K

c.1549G>A

Surrounding Variants

NM_001042646.3

p.Y509Y

c.1527C>T

NM_001042646.3

p.Y509H

c.1525T>C

NM_001042646.3

p.A528Fs

c.1584delinsTCFs

NM_001042646.3

p.G531G

c.1593C>T

NM_001042646.3

p.L533L

c.1599G>A

NM_001042646.3

p.E542K

c.1624G>A

NM_001042646.3

p.G582Splc

c.1744+9G>A

NM_001265610.1

p.R550C

c.1648C>T

NM_001042646.3

p.D460N

c.1378G>A

NM_001042646.3

p.R446fs

c.1336_1337fs

NM_001042646.3

p.T444fs

c.1330_1331fs

NM_001042646.3

p.S443G

c.1327A>G