Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_006642.5

p.S548N

c.1643G>A

Surrounding Variants

NM_006642.5

p.Q546_S550delFs

c.1637_1649del13

NM_006642.5

p.D543fs

c.1627_1628fs

NM_006642.5

p.D543_S544delFs

c.1627_1630del4

NM_006642.5

p.Q556delFs

c.1666delC

NM_006642.5

p.Q573*

c.1717C>T

NM_006642.5

p.E575E

c.1725G>A

NM_006642.5

p.E582Splc

c.1744+2T>C

NM_006642.5

p.L588*

c.1763T>A

NM_006642.5

p.Q592R

c.1775A>G

NM_006642.5

p.L599*

c.1796T>A

NM_006642.5

p.L599*

c.1796T>G

NM_006642.5

p.L606insFs

c.1817_1818dupTA