Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001100121.2

p.M498V

c.1492A>G

Surrounding Variants

NM_001100121.2

p.D516N

c.1546G>A

NM_001100121.2

p.G517G

c.1551G>A

NM_001100121.2

p.G517_Y518Splc

c.1551+3G>C

NM_001100121.2

p.L474L

c.1422G>A

NM_001100121.2

p.S524insFs

c.1571_1572insC

NM_001037324.3

p.R521*

c.1561C>T

NM_001100121.2

p.V560L

c.1678G>T

NM_001100121.2

p.Y563F

c.1688A>T

NM_001100121.2

p.E570K

c.1708G>A

NM_001100121.2

p.F582L

c.1746C>A

NM_001100121.2

p.G595insFs

c.1783_1784ins4

NM_001100121.2

p.G612Splc

c.1834+1G>A