Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 15 variants

NM_001134651.2

p.L3R

c.8T>G

NM_001134651.2

p.P5fs

c.13_14fs

NM_001134651.2

p.P5delFs

c.14delG

NM_001134651.2

p.P28insFs

c.84dupC

NM_001134651.2

p.P62H

c.185C>A

NM_001134651.2

p.A64T

c.190G>A

NM_001134651.2

p.Y89H

c.265T>C

NM_001134651.2

p.S97insFs

c.289_290insTT

NM_001134651.2

p.C102F

c.305G>T

NM_001134651.2

p.E118Q

c.352G>C

NM_001134651.2

p.T135_S136Splc

c.406-169G>A

NM_001134651.2

p.W139delFs

c.415delA