Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 37 variants

NM_001277403.2

p.T412I

c.1235C>T

NM_001277403.2

p.H302insFs

c.906dupT

NM_001277403.2

p.K303*

c.907A>T

NM_001277403.2

p.N335T

c.1004A>C

NM_001277403.2

p.E477insFs

c.1429_1430insA

NM_001277403.2

p.I479fs

c.1435_1436fs

NM_001277403.2

p.M1_G2Splc

c.3+63G>T

NM_001277403.2

p.G44Splc

c.131-2A>T

NM_001277403.2

p.Q83P

c.248A>C

NM_001277403.2

p.L137F

c.411G>C

NM_001277403.2

p.L137F

c.411G>T

NM_001277403.2

p.L181I

c.541T>A