Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 70 variants

NM_001384355.1

p.C90R

c.268T>C

NM_001384355.1

p.R54*

c.160C>T

NM_001384355.1

p.K29*

c.85A>T

NM_001384355.1

p.R65*

c.193C>T

NM_001384355.1

p.I152L

c.454A>C

NM_001384355.1

p.R11*

c.31C>T

NM_001384355.1

p.E34fs

c.100_101fs

NM_001384355.1

p.C35insFs

c.103dupT

NM_001384355.1

p.K48insFs

c.143dupA

NM_001384355.1

p.K48_V49Splc

c.144+1G>A

NM_001384355.1

p.K50insFs

c.148dupA

NM_001384355.1

p.I51fs

c.151_152fs