Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

NM_001348719.2

p.F26C

c.77T>G

NM_001348719.2

p.L60fs

c.178_179fs

NM_001348719.2

p.N113S

c.338A>G

NM_001348719.2

p.C155S

c.464G>C

NM_001348719.2

p.P162S

c.484C>T

NM_001348719.2

p.R179I

c.536G>T

NM_001348724.2

p.K113R

c.338A>G

NM_001348719.2

p.Q375*

c.1123C>T

NM_001348719.2

p.R398C

c.1192C>T

NM_001348724.2

p.A338G

c.1013C>G