Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 162 variants

NM_001098426.2

p.S394Splc

c.1181+1G>A

NM_001098426.2

p.R73*

c.217C>T

NM_001098426.2

p.G134Splc

c.401+2T>C

NM_001098426.2

p.R138_P146insFs

c.414_438dup25

NM_001098426.2

p.I362fs

c.1084_1085fs

NM_001098426.2

p.A32fs

c.94_95fs

NM_001098426.2

p.R73fs

c.217_218fs

NM_001098426.2

p.Q147fs

c.439_440fs

NM_001098426.2

p.R167W

c.499C>T

NM_001098426.2

p.M178L

c.532A>T

NM_001098426.2

p.M178L

c.532A>C

NM_001098426.2

p.S394fs

c.1180_1181fs