Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_014317.5

p.N149S

c.446A>G

Surrounding Variants

NM_014317.5

p.L143L

c.427C>T

NM_014317.5

p.R156*

c.466C>T

NM_014317.5

p.A142A

c.426G>A

NM_014317.5

p.V141E

c.422T>A

NM_014317.5

p.R156Splc

c.467+9T>G

NM_014317.5

p.R137*

c.409C>T

NM_014317.5

p.F136C

c.407T>G

NM_014317.5

p.A135T

c.403G>A

NM_014317.5

p.D130V

c.389A>T

NM_014317.5

p.E126K

c.376G>A

NM_014317.5

p.E123G

c.368A>G

NM_014317.5

p.E113_L114delins

c.338_341delinsG