Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 18 variants

NM_001146154.2

p.G13Splc

c.37+1G>C

NM_001146154.2

p.D49delFs

c.145delG

NM_001146154.2

p.Y64F

c.191A>T

NM_001146154.2

p.G76G

c.228A>T

NM_001146154.2

p.G143delFs

c.429delG

NM_001146154.2

p.Q173_I174Splc

c.520-14A>G

NM_001146154.2

p.Q173_I174Splc

c.520-9C>T

NM_001146154.2

p.C180C

c.540T>C

NM_001146154.2

p.E199K

c.595G>A

NM_001146154.2

p.F202S

c.605T>C

NM_001146154.2

p.H249N

c.745C>A

NM_001146154.2

p.L252M

c.754C>A