Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_001323043.2

p.A571S

c.1711G>T

Surrounding Variants

NM_001323043.2

p.W593C

c.1779G>T

NM_001323043.2

p.W593C

c.1779G>C

NM_001323043.2

p.S595L

c.1784C>T

NM_001323043.2

p.R597fs

c.1789_1790fs

NM_001323043.2

p.L596_R597delFs

c.1788_1791del4

NM_001323043.2

p.R603Q

c.1808G>A

NM_001323043.2

p.S615L

c.1844C>T

NM_001323043.2

p.M547fs

c.1639_1640fs

NM_001323043.2

p.F546insFs

c.1637dupT

NM_001323043.2

p.F546fs

c.1636_1637fs

NM_001323043.2

p.R498C

c.1492C>T

NM_001323043.2

p.L493I

c.1477T>A