Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_004433.5

p.D230Splc

c.689-1G>A

Surrounding Variants

NM_004433.5

p.D230Splc

c.689-1G>C

NM_004433.5

p.D230fs

c.688_689fs

NM_004433.5

p.R233H

c.698G>A

NM_004433.5

p.R233P

c.698G>C

NM_004433.5

p.C235fs

c.703_704fs

NM_004433.5

p.K237fs

c.709_710fs

NM_004433.5

p.D230Splc

c.689-22C>T

NM_004433.5

p.D239insFs

c.715dupG

NM_004433.5

p.G238fs

c.712_713fs

NM_004433.5

p.D239fs

c.715_716fs

NM_004433.5

p.H242L

c.725A>T

NM_004433.5

p.G243R

c.727G>A