Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

1–12 of 38 variants

NM_001199013.2

p.S54I

c.161G>T

NM_001199013.2

p.K50delFs

c.150delT

NM_001199013.2

p.K50fs

c.148_149fs

NM_001199013.2

p.R58G

c.172A>G

NM_001199013.2

p.M93T

c.278T>C

NM_001199013.2

p.P246Splc

c.738-3233A>T

NM_001199013.2

p.R10H

c.29G>A

NM_001199013.2

p.P15S

c.43C>T

NM_001199013.2

p.K23delFs

c.68_69delTT

NM_001199013.2

p.G51fs

c.151_152fs

NM_001199013.2

p.D65E

c.195T>G

NM_001199013.2

p.G70fs

c.208_209fs