Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014971.2

p.E711K

c.2131G>A

Surrounding Variants

NM_014971.2

p.R687H

c.2060G>A

NM_014971.2

p.I620V

c.1858A>G

NM_014971.2

p.E714_R715Splc

c.2143-16G>A

NM_014971.2

p.R715*

c.2143C>T

NM_014971.2

p.H615H

c.1845C>T

NM_014971.2

p.R589C

c.1765C>T

NM_014971.2

p.G764R

c.2290G>A

NM_014971.2

p.G764R

c.2290G>C

NM_014971.2

p.E560del1

c.1678_1680delGAG

NM_014971.2

p.A558delFs

c.1674delT

NM_014971.2

p.A558fs

c.1672_1673fs

NM_014971.2

p.I555fs

c.1663_1664fs